ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221200 SCV001393226 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2020-08-23 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TMEM127 mRNA. The next in-frame methionine is located at codon 85. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TMEM127-related conditions. ClinVar contains an entry for this variant (Variation ID: 949685). A different variant affecting the initiator methionine of the TMEM127 mRNA (c.3G>A) has been determined to be pathogenic (PMID: 28384794, 29282712, 21156949). This suggests that this variant is also likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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