ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.1566A>C (p.Gly522=)

gnomAD frequency: 0.00111  dbSNP: rs139121564
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Total submissions: 4
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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 RCV000213807 SCV000270529 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Gly522Gly in Exon 16 of MYO3A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (31/9280) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs139121564).
GeneDx RCV001566540 SCV001790075 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001566540 SCV003294803 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929895 SCV004745008 likely benign MYO3A-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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