ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.480G>T (p.Thr160=)

gnomAD frequency: 0.09365  dbSNP: rs12257119
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Total submissions: 5
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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 RCV000039044 SCV000062722 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Thr160Thr in Exon 06 of MYO3A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 21.5% (802/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs12257119)."
PreventionGenetics, part of Exact Sciences RCV000039044 SCV000312824 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324009 SCV000361904 benign Autosomal recessive nonsyndromic hearing loss 30 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000039044 SCV000717123 benign not specified 2017-05-09 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 RCV002054743 SCV002392026 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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