ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)

gnomAD frequency: 0.00001  dbSNP: rs1424733983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213950 SCV001385611 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-08-25 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 943702). This variant has not been reported in the literature in individuals affected with TMEM127-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 69 of the TMEM127 protein (p.Ser69Pro).
Ambry Genetics RCV002418734 SCV002724771 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-21 criteria provided, single submitter clinical testing The p.S69P variant (also known as c.205T>C), located in coding exon 1 of the TMEM127 gene, results from a T to C substitution at nucleotide position 205. The serine at codon 69 is replaced by proline, an amino acid with similar 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.
GeneDx RCV003442774 SCV004169287 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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