ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.7147G>A (p.Val2383Ile)

gnomAD frequency: 0.00008  dbSNP: rs143943210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997417 SCV002230182 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2383 of the FAT4 protein (p.Val2383Ile). This variant is present in population databases (rs143943210, gnomAD 0.009%). 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: 1449174). 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.
Ambry Genetics RCV004616914 SCV005115771 uncertain significance Inborn genetic diseases 2024-05-16 criteria provided, single submitter clinical testing The c.7147G>A (p.V2383I) alteration is located in exon 7 (coding exon 7) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 7147, causing the valine (V) at amino acid position 2383 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025501 SCV005662384 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-03 criteria provided, single submitter clinical testing

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