ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) (rs146632722)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429366 SCV000531884 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing The A72T variant of uncertain significance in the B4GALT7 gene has not been published as pathogenic or benign variant to our knowledge. It was observed at a low frequency (60/66018 alleles; 0.09%) in individuals of European ancestry in the Exome Aggregation Consortium, though no homozygous individuals have been reported. The A272T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved across species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV001066223 SCV001231228 uncertain significance Ehlers-Danlos syndrome progeroid type 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 272 of the B4GALT7 protein (p.Ala272Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs146632722, ExAC 0.09%). This variant has not been reported in the literature in individuals with B4GALT7-related conditions. ClinVar contains an entry for this variant (Variation ID: 389383). 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: "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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000429366 SCV001371073 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing

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