ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1024G>T (p.Ala342Ser)

gnomAD frequency: 0.00011  dbSNP: rs760665615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698078 SCV000826720 uncertain significance Epileptic encephalopathy 2024-09-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 342 of the FASN protein (p.Ala342Ser). This variant is present in population databases (rs760665615, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 575765). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000698078 SCV000895146 uncertain significance Epileptic encephalopathy 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026427 SCV004869669 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.1024G>T (p.A342S) alteration is located in exon 8 (coding exon 7) of the FASN gene. This alteration results from a G to T substitution at nucleotide position 1024, causing the alanine (A) at amino acid position 342 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411625 SCV004114611 uncertain significance FASN-related disorder 2024-06-25 no assertion criteria provided clinical testing The FASN c.1024G>T variant is predicted to result in the amino acid substitution p.Ala342Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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