ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.4406G>A (p.Arg1469Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003085309 SCV003461302 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1469 of the FAT2 protein (p.Arg1469Gln). This variant is present in population databases (rs200746707, gnomAD 0.02%). 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: 2152737). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine 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 RCV004071730 SCV003710311 uncertain significance not specified 2021-12-07 criteria provided, single submitter clinical testing The c.4406G>A (p.R1469Q) alteration is located in exon 7 (coding exon 7) of the FAT2 gene. This alteration results from a G to A substitution at nucleotide position 4406, causing the arginine (R) at amino acid position 1469 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003085309 SCV004157470 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing FAT2: BP4

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