ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595554 SCV003495335 uncertain significance not provided 2022-06-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 300 of the PRDM5 protein (p.Cys300Arg). This variant is present in population databases (rs777726075, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PRDM5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003147825 SCV003835970 uncertain significance Brittle cornea syndrome 2 2022-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161897 SCV003913015 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The p.C300R variant (also known as c.898T>C), located in coding exon 8 of the PRDM5 gene, results from a T to C substitution at nucleotide position 898. The cysteine at codon 300 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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