ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)

gnomAD frequency: 0.00002  dbSNP: rs371189136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733924 SCV000862029 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855794 SCV002129296 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2021-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 80 of the CHST14 protein (p.Gly80Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 597719). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV003303223 SCV004000762 uncertain significance Cardiovascular phenotype 2023-04-07 criteria provided, single submitter clinical testing The p.G80D variant (also known as c.239G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 239. The glycine at codon 80 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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