Submissions for variant NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)

gnomAD frequency: 0.00288  dbSNP: rs142747281

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435235	SCV000512983	likely benign	not specified	2017-12-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957572	SCV001104382	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000957572	SCV001157309	likely benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000435235	SCV002071111	likely benign	not specified	2019-07-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957572	SCV002544901	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FAT4: BP4, BS2
Genetics and Molecular Pathology, SA Pathology	RCV002272230	SCV002556600	likely benign	Hennekam lymphangiectasia-lymphedema syndrome 2	2020-10-14	criteria provided, single submitter	clinical testing	The FAT4 c.4303A>G variant is classified as Likely Benign (BS2, BP4, BP6)
Ambry Genetics	RCV002524765	SCV003626889	likely benign	Inborn genetic diseases	2021-10-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000957572	SCV001800415	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000957572	SCV001970267	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902476	SCV004724861	likely benign	FAT4-related disorder	2019-07-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).