ClinVar Miner

Submissions for variant NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter)

gnomAD frequency: 0.00001  dbSNP: rs1479389213
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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 RCV002272616 SCV002556482 uncertain significance Congenital heart defects and ectodermal dysplasia 2020-04-03 criteria provided, single submitter clinical testing The PRKD1 c.2624G>A variant is a single nucleotide change from a guanine to an adenine at position 2624 which is predicted to change the glutamine at position 876 in the protein to a premature termination codon. The variant is in exon 19 of 19, the role of this region for protein function is unknown, and the variant removes less than 10% of the wildtype protein (PVS1-moderate). The variant has not been described in the literature to date. The variant is not in dbSNP but has been reported once in population databases (gnomAD 1/31396, 0 homozygotes) (PM2). The variant has not been reported in the ClinVar or HGMD disease databases.

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