ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12273G>A (p.Met4091Ile) (rs751834009)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000505942 SCV000605550 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing The p.Met4091Ile variant (rs751834009) has not been reported in the medical literature nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.001% (identified in 4 out of 276,746 chromosomes). The methionine at codon 4091 is weakly conserved considering 12 species (Alamut software v2.9), and computational analyses suggest this variant does not have a significant effect on USH2A protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Met4091Ile variant cannot be determined with certainty.

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