ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.144C>T (p.Leu48=)

dbSNP: rs1684391372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138321 SCV001298363 uncertain significance Pheochromocytoma 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001498945 SCV001703700 likely benign Hereditary pheochromocytoma-paraganglioma 2023-07-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819844 SCV002071801 uncertain significance not specified 2021-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393365 SCV002701821 likely benign Hereditary cancer-predisposing syndrome 2022-06-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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