ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) (rs142476892)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416090 SCV000493394 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000709856 SCV000895690 uncertain significance Ehlers-Danlos syndrome progeroid type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000416090 SCV000529336 uncertain significance not provided 2018-08-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the B4GALT7 gene. The H93Y variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 328/123,148 (0.27%) alleles from individuals of European (non-Finnish) background in large population cohorts (Lek et al., 2016). Nevertheless, the H93Y 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. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
GenomeConnect, ClinGen RCV000709856 SCV000840188 not provided Ehlers-Danlos syndrome progeroid type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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