ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11321A>G (p.Gln3774Arg)

gnomAD frequency: 0.00001  dbSNP: rs1387872729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001964472 SCV002128942 uncertain significance not provided 2021-01-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 3772 of the FAT4 protein (p.Gln3772Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with FAT4-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV005023326 SCV005657575 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-27 criteria provided, single submitter clinical testing

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