ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5012G>A (p.Arg1671His)

gnomAD frequency: 0.00004  dbSNP: rs375605783
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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 RCV001921119 SCV002191407 uncertain significance not provided 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1671 of the FAT4 protein (p.Arg1671His). This variant is present in population databases (rs375605783, gnomAD 0.004%). 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: 1415937). 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 RCV001921119 SCV005370153 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004975870 SCV005579844 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.5012G>A (p.R1671H) 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 5012, causing the arginine (R) at amino acid position 1671 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023448 SCV005662288 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-01-02 criteria provided, single submitter clinical testing

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