ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.67T>C (p.Tyr23His)

dbSNP: rs943915263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483819 SCV000574256 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003168986 SCV003914083 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.67T>C (p.Y23H) alteration is located in exon 1 (coding exon 1) of the MAGEL2 gene. This alteration results from a T to C substitution at nucleotide position 67, causing the tyrosine (Y) at amino acid position 23 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000483819 SCV005691399 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 23 of the MAGEL2 protein (p.Tyr23His). 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: 424447). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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