ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2324A>G (p.Asn775Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305092 SCV001494406 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 775 of the FAT4 protein (p.Asn775Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs762681862, ExAC 0.002%). This variant has not been reported in the literature in individuals 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. 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. 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.

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