ClinVar Miner

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

gnomAD frequency: 0.00062  dbSNP: rs146632722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429366 SCV000531884 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001066223 SCV001231228 uncertain significance Ehlers-Danlos syndrome progeroid type 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 272 of the B4GALT7 protein (p.Ala272Thr). This variant is present in population databases (rs146632722, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 389383). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt B4GALT7 protein function. 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 Center for Human Genetics Tuebingen RCV000429366 SCV001371073 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001066223 SCV001528710 uncertain significance Ehlers-Danlos syndrome progeroid type 2018-12-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002522511 SCV003646011 uncertain significance Inborn genetic diseases 2021-03-31 criteria provided, single submitter clinical testing The c.814G>A (p.A272T) alteration is located in exon 5 (coding exon 5) of the B4GALT7 gene. This alteration results from a G to A substitution at nucleotide position 814, causing the alanine (A) at amino acid position 272 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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