ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1232G>A (p.Arg411His)

gnomAD frequency: 0.00001  dbSNP: rs200303993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065084 SCV001230023 uncertain significance Neuronal ceroid lipofuscinosis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 411 of the CTSD protein (p.Arg411His). This variant is present in population databases (rs200303993, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CTSD-related conditions. ClinVar contains an entry for this variant (Variation ID: 859061). 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. 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.
Ambry Genetics RCV002365756 SCV002662893 uncertain significance Inborn genetic diseases 2018-11-16 criteria provided, single submitter clinical testing The p.R411H variant (also known as c.1232G>A), located in coding exon 9 of the CTSD gene, results from a G to A substitution at nucleotide position 1232. The arginine at codon 411 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145328 SCV003828737 uncertain significance Neuronal ceroid lipofuscinosis 10 2020-03-12 criteria provided, single submitter clinical testing

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