ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6462G>A (p.Leu2154=) (rs1558203898)

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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 RCV000756892 SCV000884860 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing The USH2A c.6462G>A; p.Leu2154Leu variant is not reported in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database or in the population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is a silent variant, the nucleotide at this position is well conserved across species, but computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict any change to the conserved splicing signals. Based on available information, we consider this variant likely benign.

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