ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)

gnomAD frequency: 0.00002  dbSNP: rs781430388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326746 SCV001517793 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-02-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1026315). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (rs781430388, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 198 of the CHST14 protein (p.Glu198Lys).
Ambry Genetics RCV004035215 SCV005030322 uncertain significance Cardiovascular phenotype 2024-02-16 criteria provided, single submitter clinical testing The p.E198K variant (also known as c.592G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 592. The glutamic acid at codon 198 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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