ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.10338C>G (p.Ile3446Met)

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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 RCV002618759 SCV002959841 uncertain significance not provided 2022-04-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3444 of the FAT4 protein (p.Ile3444Met). This variant is present in population databases (rs376736700, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected 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. 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 RCV002645599 SCV003554186 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.10332C>G (p.I3444M) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a C to G substitution at nucleotide position 10332, causing the isoleucine (I) at amino acid position 3444 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025912 SCV005657544 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-06 criteria provided, single submitter clinical testing

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