ClinVar Miner

Submissions for variant NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys)

gnomAD frequency: 0.00226  dbSNP: rs201215099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570523 SCV001794828 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001570523 SCV003278673 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001570523 SCV005193612 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980705 SCV004792269 likely benign CTU2-related disorder 2019-04-04 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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