ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)

gnomAD frequency: 0.00063  dbSNP: rs199740747
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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 RCV000312918 SCV000401103 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-01-12 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 RCV000825785 SCV000967252 likely benign not specified 2019-02-19 criteria provided, single submitter clinical testing The p.Ala545Val variant in MYO15A is classified as likely benign because it has been identified in 0.77% (72/9384) of Ashkenazi Jewish chromosomes and 0.07% (76/105824) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV000914617 SCV001059800 benign not provided 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000914617 SCV001805694 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30622556, 27375115, 26969326)
Baylor Genetics RCV000312918 SCV003835350 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-07-05 criteria provided, single submitter clinical testing

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