ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)

gnomAD frequency: 0.00001  dbSNP: rs1485424649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292606 SCV001481191 uncertain significance Pheochromocytoma 2020-06-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002366110 SCV002657412 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-05 criteria provided, single submitter clinical testing The p.M214I variant (also known as c.642G>T), located in coding exon 3 of the TMEM127 gene, results from a G to T substitution at nucleotide position 642. The methionine at codon 214 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003633584 SCV004388447 uncertain significance Hereditary pheochromocytoma-paraganglioma 2022-12-26 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 214 of the TMEM127 protein (p.Met214Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 997454). 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%).

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