ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)

gnomAD frequency: 0.00069  dbSNP: rs146419641
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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 RCV000214515 SCV000272142 uncertain significance not specified 2018-02-15 criteria provided, single submitter clinical testing The p.Arg1177Cys variant in MYO6 has been previously reported by our laboratory in the heterozygous state in 1 individual with hearing loss. This variant has be en identified in 0.18% (44/24026) of African chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs146419641) and i s reported in ClinVar (Variation ID: 228995). Computational prediction tools and conservation analysis suggest that the p.Arg1177Cys variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the p.Arg1177Cys variant is uncertain . ACMG/AMP Criteria applied: PP3.
Eurofins Ntd Llc (ga) RCV000726248 SCV000343170 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000726248 SCV001787272 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Invitae RCV000726248 SCV004677983 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing

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