ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.503G>A (p.Cys168Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003730601 SCV004523264 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FAT2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. This variant is present in population databases (rs373306836, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 168 of the FAT2 protein (p.Cys168Tyr).
Ambry Genetics RCV004374113 SCV004869970 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.503G>A (p.C168Y) alteration is located in exon 1 (coding exon 1) of the FAT2 gene. This alteration results from a G to A substitution at nucleotide position 503, causing the cysteine (C) at amino acid position 168 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003919340 SCV004728134 likely benign FAT2-related disorder 2022-09-13 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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