ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)

dbSNP: rs1131691521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493088 SCV000582297 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing The F105V variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F105Vvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. Moreover, this substitution occurs at a position that is conserved across species,and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nonetheless, thisvariant lacks observation in a significant number of affected individuals, segregation data, and functional evidence,which would further clarify its pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005044740 SCV005671605 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 1 2024-05-21 criteria provided, single submitter clinical testing

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