ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2273C>T (p.Ala758Val)

dbSNP: rs2140714041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002034314 SCV002307523 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 758 of the MAGEL2 protein (p.Ala758Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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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