ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.620C>T (p.Ala207Val)

gnomAD frequency: 0.00002  dbSNP: rs751044006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457015 SCV000543178 uncertain significance Hereditary pheochromocytoma-paraganglioma 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 207 of the TMEM127 protein (p.Ala207Val). This variant is present in population databases (rs751044006, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TMEM127-related conditions. ClinVar contains an entry for this variant (Variation ID: 405198). 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 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.
Ambry Genetics RCV002356647 SCV002655075 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-29 criteria provided, single submitter clinical testing The p.A207V variant (also known as c.620C>T), located in coding exon 3 of the TMEM127 gene, results from a C to T substitution at nucleotide position 620. The alanine at codon 207 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005027502 SCV005663309 uncertain significance Pheochromocytoma 2024-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899903 SCV004715574 uncertain significance TMEM127-related disorder 2024-02-08 no assertion criteria provided clinical testing The TMEM127 c.620C>T variant is predicted to result in the amino acid substitution p.Ala207Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. In ClinVar, this variant is interpreted as uncertain by multiple laboratories (https://www.ncbi.nlm.nih.gov/clinvar/variation/405198/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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