Submissions for variant NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)

gnomAD frequency: 0.00066  dbSNP: rs116568645

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000483029	SCV000574236	uncertain significance	not provided	2024-01-11	criteria provided, single submitter	clinical testing	Reported along with a second variant in the FAT4 gene in a patient with Fanconi anemia in the published literature; however, segregation information and additional clinical information were not provided (PMID: 23623386); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23623386)
Baylor Genetics	RCV001333192	SCV001525707	uncertain significance	Hennekam lymphangiectasia-lymphedema syndrome 2	2018-04-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV000483029	SCV001696035	likely benign	not provided	2025-01-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902733	SCV004720378	likely benign	FAT4-related disorder	2022-11-29	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).