ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2600A>G (p.Asn867Ser)

gnomAD frequency: 0.00003  dbSNP: rs749940416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003160163 SCV003859823 uncertain significance Inborn genetic diseases 2023-01-12 criteria provided, single submitter clinical testing The p.N867S variant (also known as c.2600A>G), located in coding exon 23 of the PRKDC gene, results from an A to G substitution at nucleotide position 2600. The asparagine at codon 867 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252836 SCV001163979 uncertain significance Microcephaly no assertion criteria provided research

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