ClinVar Miner

Submissions for variant NM_014268.4(MAPRE2):c.518G>A (p.Arg173Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283747 SCV002572796 likely pathogenic Skin creases, congenital symmetric circumferential, 2 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MAPRE2-related disorder (PMID: 31903734). The variant has been previously reported as de novo in a similarly affected individual (PMID: 31903734). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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