ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)

gnomAD frequency: 0.00006  dbSNP: rs187637689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872249 SCV002117820 uncertain significance not provided 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 247 of the PRDM5 protein (p.Ser247Leu). This variant is present in population databases (rs187637689, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PRDM5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359408). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482495 SCV002783770 uncertain significance Brittle cornea syndrome 2 2022-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001872249 SCV003840869 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Breakthrough Genomics, Breakthrough Genomics RCV001872249 SCV005190246 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004988808 SCV005480477 benign Cardiovascular phenotype 2024-09-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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