ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) (rs1571678968)

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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 RCV001002567 SCV001160540 uncertain significance not specified 2019-05-22 criteria provided, single submitter clinical testing The USH2A c.10934T>A; p.Val3645Asp variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 3645 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. However, due to limited information, the clinical significance of the p.Val3645Asp variant is uncertain at this time.

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