ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)

dbSNP: rs1469032409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002282738 SCV002569372 uncertain significance Usher syndrome type 2A 2022-05-02 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 67 of the USH2A gene that results in the amino acid substitution of Glycine for Serine at codon 4895 was detected. The observed variant c.14683A>G(p.Ser4895Gly) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and LRT . The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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