ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) (rs756942664)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724512 SCV000230339 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000178286 SCV000723235 likely benign not specified 2017-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767902 SCV000898541 uncertain significance Ehlers-Danlos syndrome progeroid type 2018-07-23 criteria provided, single submitter clinical testing B4GALT7 NM_007255.2 exon 4 p.Asp229= (c.687C>T): This variant has not been reported in the literature but is present in 15/126532 European alleles in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:197288). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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