ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)

gnomAD frequency: 0.00001  dbSNP: rs371617787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000356841 SCV000447341 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171740 SCV001334578 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984844 SCV005480473 uncertain significance Cardiovascular phenotype 2024-09-24 criteria provided, single submitter clinical testing The p.K460R variant (also known as c.1379A>G), located in coding exon 12 of the PRDM5 gene, results from an A to G substitution at nucleotide position 1379. The lysine at codon 460 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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