ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3635G>A (p.Arg1212Gln)

gnomAD frequency: 0.00002  dbSNP: rs141544076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520605 SCV000618275 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing The R1212Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016). The R1212Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret R1212Q as a variant of uncertain significance.
Neuberg Centre For Genomic Medicine, NCGM RCV004576956 SCV005061122 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type criteria provided, single submitter clinical testing

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