ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.5512T>C (p.Phe1838Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004202613 SCV003705721 uncertain significance not specified 2024-12-05 criteria provided, single submitter clinical testing The c.5512T>C (p.F1838L) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a T to C substitution at nucleotide position 5512, causing the phenylalanine (F) at amino acid position 1838 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003575016 SCV004365420 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1838 of the FAT2 protein (p.Phe1838Leu). This variant is present in population databases (rs142666998, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2367138). 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 tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003946395 SCV004762957 likely benign FAT2-related disorder 2022-05-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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