ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.426C>T (p.Thr142=)

gnomAD frequency: 0.00001  dbSNP: rs552787569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562893 SCV000664548 benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870226 SCV001011712 likely benign Hereditary pheochromocytoma-paraganglioma 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497206 SCV002805368 likely benign Pheochromocytoma 2022-05-24 criteria provided, single submitter clinical testing

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