ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3710G>A (p.Ser1237Asn)

gnomAD frequency: 0.00001  dbSNP: rs548731852
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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 RCV001895162 SCV002156218 uncertain significance Epileptic encephalopathy 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1237 of the FASN protein (p.Ser1237Asn). This variant is present in population databases (rs548731852, gnomAD 0.06%). 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: 1381012). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine 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.
Ambry Genetics RCV004041210 SCV004869700 uncertain significance not specified 2024-01-09 criteria provided, single submitter clinical testing The c.3710G>A (p.S1237N) alteration is located in exon 22 (coding exon 21) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 3710, causing the serine (S) at amino acid position 1237 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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