ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp)

dbSNP: rs2146840102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272615 SCV002556479 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type 2020-04-03 criteria provided, single submitter clinical testing The KDM5C c.2624G>A variant is a single nucleotide change from a guanine to an adenine at position 2624 which is predicted to change the glycine at position 875 in the protein to aspartic acid. The variant has not been described in the literature to date. The variant has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in the ClinVar or HGMD disease databases. Computational predictions are conflicting: the residue is conserved but in silico tools predict a benign effect (neither BP4 or PP3 applied).

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