ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) (rs111033486)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675104 SCV000800647 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036230 SCV000059882 likely pathogenic Usher syndrome 2019-02-11 criteria provided, single submitter clinical testing The p.Ser211Gly variant in MYO7A has been reported in 3 individuals with clinical features of Usher syndrome (Zhao 2015; LMM internal data). It has also been identified in 0.005% (7/128370) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; rs111033486). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analysis suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome. ACMG/AMP Criteria applied: PM3_Strong, PM2, PP3, PP4

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