ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)

dbSNP: rs151187460
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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 RCV000151442 SCV000199472 likely benign not specified 2013-08-06 criteria provided, single submitter clinical testing Arg628Gly in Exon 18 of MYO1A: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (19/8600) European American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; dbSNP rs151187460).
GeneDx RCV000151442 SCV000714963 likely benign not specified 2017-12-19 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.
PreventionGenetics, part of Exact Sciences RCV003952720 SCV004769346 likely benign MYO1A-related condition 2020-01-13 criteria provided, single submitter 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).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000211654 SCV000268687 likely benign Autosomal dominant nonsyndromic hearing loss 48 2016-05-10 no assertion criteria provided research

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