ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4210A>G (p.Met1404Val)

dbSNP: rs779982980
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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 RCV002029840 SCV002110324 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs779982980, ExAC 0.001%). 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. 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 affected with FAT4-related conditions. This sequence change replaces methionine with valine at codon 1404 of the FAT4 protein (p.Met1404Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
Fulgent Genetics, Fulgent Genetics RCV005023281 SCV005662263 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-07 criteria provided, single submitter clinical testing

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