ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315493 SCV004015252 uncertain significance Pheochromocytoma 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 87 of the TMEM127 protein. The proline residue is moderately conserved and there is a large physicochemical difference between proline and leucine. This variant is not present in population databases (gnomAD). This variant has not been reported in the literature in individuals with TMEM127-related disease. ClinVar does not contain an entry for this variant. In silico predictions show SIFT: "damaging"; and PolyPhen-2: "tolerated". Therefore, it has been classified as a Variant of Uncertain Significance.

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