ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.797G>A (p.Arg266His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002612589 SCV003513075 uncertain significance Neuronal ceroid lipofuscinosis 2022-04-10 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 disruptive. This variant has not been reported in the literature in individuals affected with CTSD-related conditions. This variant is present in population databases (rs755866863, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 266 of the CTSD protein (p.Arg266His).

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