ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1273G>T (p.Ala425Ser)

dbSNP: rs138548779
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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 RCV001968394 SCV002239911 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 425 of the FAT4 protein (p.Ala425Ser). This variant is present in population databases (rs138548779, gnomAD 0.02%). 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 RCV004616919 SCV005115765 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.1273G>T (p.A425S) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a G to T substitution at nucleotide position 1273, causing the alanine (A) at amino acid position 425 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032030 SCV005664936 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-29 criteria provided, single submitter clinical testing

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