ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.308del (p.Gly103fs) (rs727503490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152047 SCV000200639 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2016-04-07 criteria provided, single submitter clinical testing The p.Gly103fs variant in TMEM127 has been identified in 1 individual with pheoc hromocytomas and renal cell carcinoma (Hernandez 2015, LMM data). It has not be en identified in large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 103 and leads to a premature termination codon 21 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Multiple heterozygous variants in TMEM127 leading to a frameshift and predicted truncate d or absent protein have been reported in individuals with pheochromocytomas. In summary, although additional studies are required to fully establish its clinic al significance, the p.Gly103fs variant is likely pathogenic.

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