ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.839A>C (p.Lys280Thr)

dbSNP: rs2150925451
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823592 SCV002073156 uncertain significance Nephropathic cystinosis criteria provided, single submitter clinical testing The missense variant p.K280T in CTNS (NM_004937.3) has not been reported previously in affected patients. Another missense mutation affecting the same amino acid residue Lys280Arg has been reported previously in patients with Juvenile cystinosis (Cherqui S et al). The p.K280T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.The p.K280T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.839 in CTNS is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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