ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1774G>A (p.Gly592Ser)

gnomAD frequency: 0.00014  dbSNP: rs149454216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964590 SCV001111812 likely benign Epileptic encephalopathy 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004917660 SCV005586557 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing The c.1774G>A (p.G592S) alteration is located in exon 11 (coding exon 10) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 1774, causing the glycine (G) at amino acid position 592 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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