ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4680A>C (p.Ala1560=) (rs1233583863)

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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 RCV000756889 SCV000884857 likely benign not provided 2017-07-30 criteria provided, single submitter clinical testing The USH2A c.4680A>C;p.Ala1560Ala variant has not been described in the medical literature, gene-specific databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database, but is listed in the Genome Aggregation Database with an allele frequency of 0.0004064 percent (1/246084 alleles). The nucleotide at this position is not well conserved and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict no significant change to splicing. Considering available information, this variant is classified as likely benign.

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