ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3555C>G (p.Ala1185=)

gnomAD frequency: 0.00110  dbSNP: rs142613672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878212 SCV001021076 benign Epileptic encephalopathy 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424427 SCV004144673 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FASN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003938387 SCV004756499 likely benign FASN-related condition 2019-06-10 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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