ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.135T>A (p.Asp45Glu)

gnomAD frequency: 0.00024  dbSNP: rs1273933786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873081 SCV001015010 likely benign not provided 2024-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027816 SCV004902077 likely benign Inborn genetic diseases 2023-10-30 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.
PreventionGenetics, part of Exact Sciences RCV003413698 SCV004115372 uncertain significance MAGEL2-related disorder 2024-07-12 no assertion criteria provided clinical testing The MAGEL2 c.135T>A variant is predicted to result in the amino acid substitution p.Asp45Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.090% of alleles in individuals of Latino descent in gnomAD, which is likely too common for a pathogenic variant in MAGEL2. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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