ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe)

gnomAD frequency: 0.00009  dbSNP: rs376545643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338327 SCV001531988 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2436 of the FAT4 protein (p.Val2436Phe). This variant is present in population databases (rs376545643, gnomAD 0.01%). 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: 1035455). 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224556 SCV003919941 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2022-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (9/67992) (https://gnomad.broadinstitute.org/variant/4-125446405-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1035455). Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV003355405 SCV004054251 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.7306G>T (p.V2436F) alteration is located in exon 8 (coding exon 8) of the FAT4 gene. This alteration results from a G to T substitution at nucleotide position 7306, causing the valine (V) at amino acid position 2436 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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