ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.653T>C (p.Leu218Pro)

dbSNP: rs1131691905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493037 SCV000583108 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CTSD gene. The L218P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L218P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L218P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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