ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala)

gnomAD frequency: 0.00028  dbSNP: rs780846548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696351 SCV000824908 uncertain significance Epileptic encephalopathy 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2052 of the FASN protein (p.Gly2052Ala). This variant is present in population databases (rs780846548, 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: 574423). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002533441 SCV003684998 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.6155G>C (p.G2052A) alteration is located in exon 36 (coding exon 35) of the FASN gene. This alteration results from a G to C substitution at nucleotide position 6155, causing the glycine (G) at amino acid position 2052 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000845015 SCV000986847 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/15/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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