ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)

dbSNP: rs121908128
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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 RCV002512768 SCV001581388 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 323 of the CTNS protein (p.Asn323Lys). This variant is present in population databases (rs121908128, gnomAD 0.01%). This missense change has been observed in individual(s) with cystinosis (PMID: 10444339, 28238446). ClinVar contains an entry for this variant (Variation ID: 4456). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CTNS function (PMID: 15128704). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003466816 SCV004215222 pathogenic Nephropathic cystinosis 2024-03-19 criteria provided, single submitter clinical testing
OMIM RCV000004709 SCV000024884 pathogenic Juvenile nephropathic cystinosis 1999-08-01 no assertion criteria provided literature only

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