ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) (rs121912827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675182 SCV000800814 likely pathogenic Alport syndrome, autosomal recessive 2018-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000485138 SCV000568798 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing The G985V variant in the COL4A3 gene has been reported previously in the heterozygous state, in four related individuals across three generations, with clinically diagnosed familial benign hematuria (Badenas et al., 2002). The G985V variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G985V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals, affecting the Glycine residue of the triple-helical region containing Gly-X-Y repeats. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret G985V as a variant of uncertain significance.
OMIM RCV000019042 SCV000039329 pathogenic Benign familial hematuria 2002-05-01 no assertion criteria provided literature only

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