ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.657C>T (p.Pro219=)

gnomAD frequency: 0.00001  dbSNP: rs1213216357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002256967 SCV002527267 likely benign Hereditary cancer-predisposing syndrome 2021-02-22 criteria provided, single submitter curation
Ambry Genetics RCV002256967 SCV002667529 likely benign Hereditary cancer-predisposing syndrome 2020-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV003094192 SCV003514134 likely benign Hereditary pheochromocytoma-paraganglioma 2023-09-19 criteria provided, single submitter clinical testing

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