ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.340C>A (p.His114Asn)

dbSNP: rs753864389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763598 SCV001997873 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868439 SCV002307119 uncertain significance Ehlers-Danlos syndrome progeroid type 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 114 of the B4GALT7 protein (p.His114Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs753864389, ExAC 0.003%). This variant has not been reported in the literature in individuals with B4GALT7-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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