ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1490C>T (p.Pro497Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002787449 SCV003577449 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1490C>T (p.P497L) alteration is located in exon 1 (coding exon 1) of the MAGEL2 gene. This alteration results from a C to T substitution at nucleotide position 1490, causing the proline (P) at amino acid position 497 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099648 SCV005780327 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 497 of the MAGEL2 protein (p.Pro497Leu). 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: 2254270). 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.
PreventionGenetics, part of Exact Sciences RCV004750319 SCV005356849 uncertain significance MAGEL2-related disorder 2024-07-24 no assertion criteria provided clinical testing The MAGEL2 c.1490C>T variant is predicted to result in the amino acid substitution p.Pro497Leu. 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.

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