ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)

gnomAD frequency: 0.00001  dbSNP: rs121908257
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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 RCV000002427 SCV002316531 likely pathogenic Ehlers-Danlos syndrome, musculocontractural type 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 213 of the CHST14 protein (p.Arg213Pro). This variant is present in population databases (rs121908257, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of CHST14-related conditions (PMID: 20004762, 26373698, 34815299). ClinVar contains an entry for this variant (Variation ID: 2337). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CHST14 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects CHST14 function (PMID: 20004762). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV001290021 SCV000022585 pathogenic Ehlers-Danlos syndrome, musculocontractural type 1 2009-12-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002427 SCV000091173 not provided Ehlers-Danlos syndrome, musculocontractural type no assertion provided not provided

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