ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) (rs200146486)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483855 SCV000573566 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing The R724H variant in the COL4A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R724H variant is observed in 14/65372 (0.02%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R724H 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R724H as a variant of uncertain significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625621 SCV000746122 uncertain significance Alport syndrome 3, autosomal dominant 2017-09-18 no assertion criteria provided clinical testing

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