ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.-9C>A

gnomAD frequency: 0.00018  dbSNP: rs140276089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520456 SCV000620207 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The A4D variant in the RBCK1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A4D variant is observed in 15/57972 (0.02%) alleles from individuals of non-Finnish European background, in large population cohorts The A4D 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. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A4D as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002497027 SCV002786037 uncertain significance Polyglucosan body myopathy type 1 2021-09-10 criteria provided, single submitter clinical testing

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