ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.484C>T (p.Arg162Cys) (rs760711308)

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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 RCV000757186 SCV000885324 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing The p.Arg162Cys variant (rs760711308) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.008 percent in the African population (identified on 2 out of 24,030 chromosomes). The arginine at position 162 is highly conserved up to C. elegans considering 12 species (Alamut v2.11) and computational analyses of the effects of the p.Arg162Cys variant on protein structure and function indicates a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg162Cys variant with certainty.

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