ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.89G>C (p.Trp30Ser) (rs121909296)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522372 SCV000617924 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SGCD gene. The W30S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W30S variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W30S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, missense variants in nearby residues have not been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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