ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)

dbSNP: rs1263951539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664507 SCV000788478 uncertain significance Nephropathic cystinosis 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530630 SCV002224419 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CTNS protein function. ClinVar contains an entry for this variant (Variation ID: 549927). This missense change has been observed in individual(s) with clinical features of cystinosis (PMID: 9792862). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 305 of the CTNS protein (p.Asp305Gly).

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