ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)

gnomAD frequency: 0.00002  dbSNP: rs749135787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317195 SCV001507844 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 58 of the CHST14 protein (p.Leu58Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs749135787, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. 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. 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.

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