ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.497C>T (p.Ala166Val)

dbSNP: rs796052396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187294 SCV000240876 likely benign not specified 2013-09-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002513998 SCV002939981 uncertain significance Neuronal ceroid lipofuscinosis 2022-06-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 205338). This variant has not been reported in the literature in individuals affected with CTSD-related conditions. This variant is present in population databases (rs796052396, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 166 of the CTSD protein (p.Ala166Val).

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