ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4105C>T (p.Gln1369Ter)

dbSNP: rs1565440205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778343 SCV000914543 uncertain significance MYO7A-Related Disorders 2018-11-06 criteria provided, single submitter clinical testing The MYO7A c.4105C>T (p.Gln1369Ter) variant is a stop-gained variant that is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database in a region of good sequencing coverage. It is therefore presumed to be rare. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Gln1369Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYO7A-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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