ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.743G>C (p.Gly248Ala)

gnomAD frequency: 0.00003  dbSNP: rs778069410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065094 SCV001230033 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 248 of the CHST14 protein (p.Gly248Ala). This variant is present in population databases (rs778069410, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. ClinVar contains an entry for this variant (Variation ID: 859068). 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. 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.
GeneDx RCV001772291 SCV001993214 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004030571 SCV003741932 uncertain significance Cardiovascular phenotype 2022-08-08 criteria provided, single submitter clinical testing The c.743G>C (p.G248A) alteration is located in exon 1 (coding exon 1) of the CHST14 gene. This alteration results from a G to C substitution at nucleotide position 743, causing the glycine (G) at amino acid position 248 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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