ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)

dbSNP: rs750990843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267670 SCV001445898 likely pathogenic Early-onset myopathy with fatal cardiomyopathy 2019-05-03 criteria provided, single submitter clinical testing This nonsense variant found in exon 198 of 363 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.38767A>T (p.Lys12923Ter) variant is classified as Likely Pathogenic.

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