ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met)

gnomAD frequency: 0.00040  dbSNP: rs781777662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173476 SCV000224594 uncertain significance not provided 2014-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173476 SCV001013200 benign not provided 2024-01-10 criteria provided, single submitter clinical testing
New York Genome Center RCV001281523 SCV001468832 uncertain significance Autistic behavior; Intellectual disability 2019-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516589 SCV003694649 likely benign Inborn genetic diseases 2021-10-12 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.

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