ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) (rs1131691530)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493202 SCV000582314 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the B3GALT6 gene. The R6Q variant has not been published as pathogenic or been reported as benign to our knowledge. No data are available from control populations to assess the frequency of this variant (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R6Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is not conserved. Moreover, in silico analysis predicts this variant likely does not alter the protein structure/function.
Fulgent Genetics,Fulgent Genetics RCV000763716 SCV000894600 uncertain significance Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, progeroid type, 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001034688 SCV000933996 uncertain significance Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2019-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 6 of the B3GALT6 protein (p.Arg6Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with B3GALT6-related disease. ClinVar contains an entry for this variant (Variation ID: 429685). 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.

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