ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) (rs267606754)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169140 SCV000220359 likely pathogenic Nephropathic cystinosis 2014-05-30 criteria provided, single submitter literature only
Invitae RCV001383392 SCV001582525 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2020-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 139 of the CTNS protein (p.Ser139Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs267606754, ExAC 0.001%). This variant has been observed in individual(s) with cystinosis (PMID: 18178779, 19863563, 10556299, 31074291). ClinVar contains an entry for this variant (Variation ID: 4458). This variant has been reported to affect CTNS protein function (PMID: 15128704). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004711 SCV000024886 pathogenic Juvenile nephropathic cystinosis 2009-11-01 no assertion criteria provided literature only
OMIM RCV000004712 SCV000024887 pathogenic Cystinosis, atypical nephropathic 2009-11-01 no assertion criteria provided literature only
GeneReviews RCV000258030 SCV000328209 pathogenic Cystinosis 2016-10-06 no assertion criteria provided literature only
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir RCV000169140 SCV001573194 pathogenic Nephropathic cystinosis no assertion criteria provided clinical testing

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