ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)

gnomAD frequency: 0.00103  dbSNP: rs200114829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642223 SCV000763877 likely benign Vici syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001570192 SCV001794432 likely benign not provided 2020-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as likely benign but additional evidence is not available (SCV000763877.1; Landrum et al., 2016); Observed in 0.0324% (91/280904 alleles) in large population cohorts (Lek et al., 2016)
PreventionGenetics, part of Exact Sciences RCV003937939 SCV004757954 likely benign EPG5-related condition 2023-03-21 criteria provided, single submitter 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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