ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)

gnomAD frequency: 0.00001  dbSNP: rs374677519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040148 SCV001203709 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 265 of the B3GALT6 protein (p.Glu265Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 missense change has been observed in individuals with B3GALT6-related skeletal dysplasia (PMID: 25149931, 29931299). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects B3GALT6 function (PMID: 29931299). 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.
Daryl Scott Lab, Baylor College of Medicine RCV001269281 SCV001448624 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2 2020-11-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145265 SCV003829724 uncertain significance not provided 2020-06-18 criteria provided, single submitter clinical testing
OMIM RCV001089598 SCV001245062 pathogenic Al-Gazali syndrome 2020-04-27 no assertion criteria provided literature only

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