ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) (rs387906699)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151492 SCV000199565 uncertain significance not specified 2015-04-28 criteria provided, single submitter clinical testing The p.Gly671Ser variant in MYO7A has previously been reported in one Chinese ind ividual with dominant hearing loss (Sun 2011). The variant segregated with disea se in one affected relative, but additional affected family members were not tes ted (Sun 2011). The p.Gly671Ser variant has not been identified in large populat ion studies. Computational prediction tools and conservation analyses do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Gly671Ser variant is uncertain.
OMIM RCV000022816 SCV000044105 pathogenic Deafness, autosomal dominant 11 2011-01-01 no assertion criteria provided literature only

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