ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) (rs200818171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155159 SCV000204845 uncertain significance not specified 2014-02-04 criteria provided, single submitter clinical testing The Arg189Cys variant in MYH14 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.02% (2/8386) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs200818171). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses suggest that the Arg189Cys va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, additional information is needed to deter mine the clinical significance of this variant.
Illumina Clinical Services Laboratory,Illumina RCV000403272 SCV000414375 likely benign Deafness, autosomal dominant 4 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000910132 SCV001054975 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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