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Table 2 Genetic variants

From: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Family

Phenotype

Gene

Genetic mutationa

Protein changea

Predicted effect

Interpretive status

1

Centronuclear myopathy

TTN

c.[35635G > C] + [39893-1G > A]

p.[V11879L] + [spl]

Splice/splice

Likely pathogenic (research result)

 

Hearing loss

GJB2

c.[101 T > C] + [35delG]

p.[M34T] + [G12Vfsa2]

Deleterious missense/frameshift

Clinically confirmed

2

Cardiac conduction defects

TRPM4

c.503 T > A

p.V168E

Deleterious missense

Likely pathogenic

3

Nemaline myopathy

OBSCN

c.[2245G > T] + [3322 T > A]

p.[G749C] + [Y1108N]

Missense

Uncertain

  

TTN

c.[84130A > T] + [14492G > A]

p.[K28044X] + [C4831Y]

Missense/nonsense

Uncertain

  1. aReference sequences as follows: TTN – NM_001256850.1 and NC_000002.11, GJB2 – NM_004004.5 and NC_000013.10, TRPM4 – NM_017636.3 and NC_000019.9, OBSCN – NM_001098623.1 and NC_000001.10.
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Genome Biology

ISSN: 1474-760X

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