ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5429A>T (p.Tyr1810Phe)

gnomAD frequency: 0.00009  dbSNP: rs201947859
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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 RCV001902962 SCV002164031 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1810 of the FAT4 protein (p.Tyr1810Phe). This variant is present in population databases (rs201947859, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. 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. 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.
GeneDx RCV001902962 SCV002757364 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Ambry Genetics RCV002554229 SCV003714591 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.5429A>T (p.Y1810F) alteration is located in exon 3 (coding exon 3) of the FAT4 gene. This alteration results from a A to T substitution at nucleotide position 5429, causing the tyrosine (Y) at amino acid position 1810 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023396 SCV005662304 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-22 criteria provided, single submitter clinical testing

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