ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys)

gnomAD frequency: 0.00149  dbSNP: rs142425196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471952 SCV001676076 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001471952 SCV002319020 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003956037 SCV004774536 likely benign GFM2-related disorder 2022-02-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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