ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5698T>C (p.Cys1900Arg) (rs201026468)

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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 RCV000756893 SCV000884861 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing The p.Cys1900Arg variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. A different variant at the same codon (p.Cys1900Gly) was reported in a heterozygous patient with retinitis pigmentosa (Haer-Wigman 2017). The p.Cys1900Arg is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The cysteine at position 1900 is moderately conserved considering 12 species (Alamut v2.10) and computational analyses of the effects of the p.Cys1900Arg variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Cys1900Arg variant with certainty.

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