ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.163G>T (p.Gly55Cys) (rs1214660308)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587980 SCV000698418 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The DSP c.163G>T (p.Gly55Cys) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 22504 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. One internal sample also carried a likely pathogenic variant in DSP c.2821C>T/p.R941X, suggesting the variant of interest possibly lies in benign spectrum. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.

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