ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5800C>T (p.Arg1934Cys)

gnomAD frequency: 0.00150  dbSNP: rs145515446
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083552 SCV001095386 likely benign Epileptic encephalopathy 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949148 SCV001151442 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FASN: BP4
PreventionGenetics, part of Exact Sciences RCV003960603 SCV004774240 likely benign FASN-related condition 2020-01-31 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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