ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) (rs558454078)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818547 SCV000959166 uncertain significance Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 114 of the B3GALT6 protein (p.Ala114Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs558454078, ExAC 0.009%). This variant has not been reported in the literature in individuals with B3GALT6-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093298 SCV001250211 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing

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