ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5412T>A (p.Ser1804Arg)

gnomAD frequency: 0.00128  dbSNP: rs140221463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637286 SCV000758734 benign Epileptic encephalopathy 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945608 SCV004765376 likely benign FASN-related condition 2022-04-12 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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