ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1507G>A (p.Ala503Thr)

gnomAD frequency: 0.00001  dbSNP: rs1331788296
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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) RCV000592477 SCV000703488 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592477 SCV002987817 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 503 of the MAGEL2 protein (p.Ala503Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAGEL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 498468). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MAGEL2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003420032 SCV004115085 uncertain significance MAGEL2-related disorder 2023-04-25 criteria provided, single submitter clinical testing The MAGEL2 c.1507G>A variant is predicted to result in the amino acid substitution p.Ala503Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005010572 SCV005630536 uncertain significance Schaaf-Yang syndrome 2024-04-12 criteria provided, single submitter clinical testing

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