ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)

gnomAD frequency: 0.00001  dbSNP: rs896003662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795032 SCV000934472 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 53 of the CHST14 protein (p.Ser53Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CHST14-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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