ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1147G>A (p.Val383Ile)

gnomAD frequency: 0.00006  dbSNP: rs764001564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526315 SCV000634924 likely benign Epileptic encephalopathy 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302808 SCV003999436 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.1147G>A (p.V383I) alteration is located in exon 9 (coding exon 8) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 1147, causing the valine (V) at amino acid position 383 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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