ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) (rs374146074)

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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 RCV000756887 SCV000884855 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing The USH2A c.8778G>T;p.Glu2926Asp variant has not been described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is listed in the dbSNP variant database (rs374146074) with an allele frequency of 0.001 percent (3/277044 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty. If this variant is later determined to be pathogenic, this individual would be predicted to be a carrier of autosomal recessive Usher syndrome or retinitis pigmentosa (OMIM#608400).

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