ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met)

gnomAD frequency: 0.00394  dbSNP: rs143826293
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Total submissions: 6
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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 RCV000038992 SCV000062670 benign not specified 2015-08-04 criteria provided, single submitter clinical testing p.Thr2780Met in exon 46 of MYO15A: This variant is not expected to have clinical significance because it has been identified in 3.4% (391/11528) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs143826293).
GeneDx RCV000038992 SCV000718718 benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999775 SCV000884204 benign Autosomal recessive nonsyndromic hearing loss 3 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756402 SCV001097153 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999775 SCV001286522 benign Autosomal recessive nonsyndromic hearing loss 3 2017-10-29 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000756402 SCV005248600 benign not provided criteria provided, single submitter not provided

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