ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1237C>A (p.Pro413Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004990441 SCV005617959 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.1237C>A (p.P413T) alteration is located in exon 1 (coding exon 1) of the MAGEL2 gene. This alteration results from a C to A substitution at nucleotide position 1237, causing the proline (P) at amino acid position 413 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061823 SCV005696670 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 413 of the MAGEL2 protein (p.Pro413Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MAGEL2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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