ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)

gnomAD frequency: 0.00013  dbSNP: rs375644526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000331849 SCV000336510 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV001855134 SCV002150069 uncertain significance Ehlers-Danlos syndrome progeroid type 2022-03-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 264 of the B4GALT7 protein (p.Arg264Gln). This variant is present in population databases (rs375644526, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with B4GALT7-related conditions. ClinVar contains an entry for this variant (Variation ID: 284046). 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 disruptive. 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.
Revvity Omics, Revvity RCV003144194 SCV003829728 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 1 2019-03-14 criteria provided, single submitter clinical testing

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