ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) (rs121908128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382551 SCV001581388 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 323 of the CTNS protein (p.Asn323Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs121908128, ExAC 0.03%). This variant has been observed in individual(s) with cystinosis (PMID: 10444339, 28238446). ClinVar contains an entry for this variant (Variation ID: 4456). This variant has been reported to affect CTNS protein function (PMID: 15128704). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004709 SCV000024884 pathogenic Juvenile nephropathic cystinosis 1999-08-01 no assertion criteria provided literature only

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