ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1827C>A (p.Asp609Glu)

dbSNP: rs370300509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302232 SCV001491431 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 609 of the FAT4 protein (p.Asp609Glu). This variant is present in population databases (rs370300509, gnomAD 0.09%). 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: 1005373). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FAT4 protein function with a negative predictive value of 80%. 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.
GeneDx RCV001302232 SCV001819739 uncertain significance not provided 2025-02-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002539494 SCV003708452 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1827C>A (p.D609E) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a C to A substitution at nucleotide position 1827, causing the aspartic acid (D) at amino acid position 609 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029882 SCV005660432 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-24 criteria provided, single submitter clinical testing

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