ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1436G>T (p.Gly479Val)

gnomAD frequency: 0.00458  dbSNP: rs149982597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540217 SCV000634928 benign Epileptic encephalopathy 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531875 SCV001747187 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FASN: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003960294 SCV004774896 likely benign FASN-related condition 2024-01-04 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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