ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)

gnomAD frequency: 0.00044  dbSNP: rs35541310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402815 SCV000361951 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608633 SCV000711146 likely benign not specified 2016-05-28 criteria provided, single submitter clinical testing p.Ser1085Ser in exon 28 of MYO3A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.1% (13/10190) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs35541310).
Labcorp Genetics (formerly Invitae), Labcorp RCV000923994 SCV001069495 likely benign not provided 2023-04-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000923994 SCV001144636 benign not provided 2019-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000923994 SCV001778713 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing

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