ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)

gnomAD frequency: 0.00004  dbSNP: rs755535418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001374172 SCV001570957 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 95 of the CHST14 protein (p.Leu95Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs755535418, ExAC 0.02%). 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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