ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)

gnomAD frequency: 0.00001  dbSNP: rs550833832
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227250 SCV000290382 benign Hereditary pheochromocytoma-paraganglioma 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566175 SCV000675299 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 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.
Fulgent Genetics, Fulgent Genetics RCV002494655 SCV002796838 likely benign Pheochromocytoma 2021-10-27 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002494655 SCV004015619 benign Pheochromocytoma 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919976 SCV004744658 benign TMEM127-related disorder 2019-05-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004710613 SCV005259872 likely benign not provided criteria provided, single submitter not provided

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