ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=)

gnomAD frequency: 0.02444  dbSNP: rs56316209
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Total submissions: 7
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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 RCV000039045 SCV000062723 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser1616Ser in Exon 35 of MYO3A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 6.8% (256/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs56316209)."
PreventionGenetics, part of Exact Sciences RCV000039045 SCV000312825 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000039045 SCV000723958 benign not specified 2017-10-23 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.
Invitae RCV000965721 SCV001112995 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000965721 SCV001144638 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107131 SCV001264262 benign Autosomal recessive nonsyndromic hearing loss 30 2017-04-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001107131 SCV001472661 benign Autosomal recessive nonsyndromic hearing loss 30 2023-09-20 criteria provided, single submitter clinical testing

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