ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg)

gnomAD frequency: 0.00004  dbSNP: rs200361960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991842 SCV002285071 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1361 of the FAT4 protein (p.Gly1361Arg). This variant is present in population databases (rs200361960, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1496370). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FAT4 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002492297 SCV002779498 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2022-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002642010 SCV003694966 uncertain significance Inborn genetic diseases 2021-04-22 criteria provided, single submitter clinical testing The c.4081G>A (p.G1361R) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 4081, causing the glycine (G) at amino acid position 1361 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001991842 SCV005384566 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Shinwari_2023[Article])

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