ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) (rs868979094)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675097 SCV000800630 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-11-28 criteria provided, single submitter clinical testing
Hereditary Research Laboratory,Bethlehem University RCV000454150 SCV000538104 pathogenic Deafness, autosomal recessive 2 2016-06-04 no assertion criteria provided research severe-profound
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223066 SCV000272144 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg373Cys variant in MYO7A has been reported in 2 Iranian siblings with hearing loss, bot h of whom were homozygous for the variant (Babanejad 2012). Data from large popu lation studies is insufficient to assess the frequency of this variant; however, the variant was reportedly not identified in 200 Iranian chromosomes (Babanejad 2012). Computational prediction tools and conservation analysis suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Arg373Cys variant is uncerta in.

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