ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro)

gnomAD frequency: 0.00006  dbSNP: rs762133798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521430 SCV000620754 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 451984; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV001040123 SCV001203683 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 346 of the CHST14 protein (p.Ala346Pro). This variant is present in population databases (rs762133798, gnomAD 0.006%). 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: 451984). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004992305 SCV005557098 uncertain significance Cardiovascular phenotype 2024-11-04 criteria provided, single submitter clinical testing The p.A346P variant (also known as c.1036G>C), located in coding exon 1 of the CHST14 gene, results from a G to C substitution at nucleotide position 1036. The alanine at codon 346 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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