ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.177C>T (p.Asp59=)

gnomAD frequency: 0.00085  dbSNP: rs139958275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151455 SCV000199488 likely benign not specified 2013-09-25 criteria provided, single submitter clinical testing Asp59Asp in Exon 04 of MYO3A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.2% (17/8600) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139958275).
Illumina Laboratory Services, Illumina RCV000372273 SCV000361902 uncertain significance Autosomal recessive nonsyndromic hearing loss 30 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000971291 SCV000726564 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000151455 SCV000855379 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Invitae RCV000971291 SCV001118928 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing

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