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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872249 SCV002117820 uncertain significance not provided 2022-08-31 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). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 2023-03-02 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

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