ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)

gnomAD frequency: 0.00001  dbSNP: rs1244525711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521024 SCV000621922 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing The R174C variant in the CLPP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R174C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R174C 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 where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R174C as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002497036 SCV002784556 uncertain significance Perrault syndrome 3 2021-09-03 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV002497036 SCV004812033 pathogenic Perrault syndrome 3 2023-01-31 no assertion criteria provided clinical testing

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