ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)

dbSNP: rs751335857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001922993 SCV002183571 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-10-04 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 not expected to disrupt CHST14 protein function. ClinVar contains an entry for this variant (Variation ID: 1411929). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (rs751335857, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 231 of the CHST14 protein (p.Arg231Gln).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276928 SCV002565456 uncertain significance Ehlers-Danlos syndrome 2022-02-23 criteria provided, single submitter clinical testing

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