ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.7407C>T (p.Asp2469=)

gnomAD frequency: 0.00048  dbSNP: rs144413151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637260 SCV000758708 likely benign Epileptic encephalopathy 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918023 SCV004728125 likely benign FASN-related condition 2020-01-27 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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