ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)

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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 RCV002400557 SCV002668787 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.R257W variant (also known as c.769C>T), located in coding exon 7 of the PRDM5 gene, results from a C to T substitution at nucleotide position 769. The arginine at codon 257 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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 RCV003130710 SCV003809842 uncertain significance Brittle cornea syndrome 2 2020-10-30 criteria provided, single submitter clinical testing

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