ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) (rs121965080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047241 SCV001211181 pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 212 of the MYO7A protein (p.Arg212Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 15043528, 27957503). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 11851). This variant has been reported to affect MYO7A protein function (PMID: 18700726). This variant disrupts the p.Arg212 amino acid residue in MYO7A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7870171, 15043528, 24199935). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012625 SCV000032860 pathogenic Usher syndrome, type 1B 1995-10-10 no assertion criteria provided literature only

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