ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.196G>A (p.Ala66Thr)

gnomAD frequency: 0.00002  dbSNP: rs1394541294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241830 SCV001414879 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 66 of the CHST14 protein (p.Ala66Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. 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 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 tolerated. 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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