Submissions for variant NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)

dbSNP: rs574179816

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000307641	SCV000399185	likely benign	Alveolar capillary dysplasia with pulmonary venous misalignment	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001850705	SCV002178459	uncertain significance	not provided	2024-01-22	criteria provided, single submitter	clinical testing	This variant, c.57_59dup, results in the insertion of 1 amino acid(s) of the FOXF1 protein (p.Gly23dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FOXF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 320786). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen	RCV001850705	SCV004138020	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	FOXF1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003920361	SCV004734410	benign	FOXF1-related disorder	2019-12-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).