ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003016045 SCV003311653 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-02-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 210 of the CHST14 protein (p.Leu210Pro). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. 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.

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