ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)

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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 RCV002412170 SCV002670041 uncertain significance Cardiovascular phenotype 2022-04-03 criteria provided, single submitter clinical testing The p.R261S variant (also known as c.783G>T), located in coding exon 7 of the PRDM5 gene, results from a G to T substitution at nucleotide position 783. The arginine at codon 261 is replaced by serine, an amino acid with dissimilar 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.
Revvity Omics, Revvity RCV003130711 SCV003809843 uncertain significance Brittle cornea syndrome 2 2022-03-28 criteria provided, single submitter clinical testing

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