Submissions for variant NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)

gnomAD frequency: 0.00021  dbSNP: rs183191959

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001429607	SCV001632324	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001429607	SCV001999460	uncertain significance	not provided	2023-03-21	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003399225	SCV004120249	uncertain significance	FAT4-related disorder	2023-04-04	criteria provided, single submitter	clinical testing	The FAT4 c.829G>A variant is predicted to result in the amino acid substitution p.Ala277Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-126238395-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV001429607	SCV005909707	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	FAT4: BS2