ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2815G>A (p.Glu939Lys)

gnomAD frequency: 0.00581  dbSNP: rs142371324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543799 SCV000634957 benign Epileptic encephalopathy 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419942 SCV004144676 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FASN: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003900155 SCV004718229 benign FASN-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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