Submissions for variant NM_032545.4(CFC1):c.522del (p.Ala175fs)

gnomAD frequency: 0.00079  dbSNP: rs746231039

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001570086	SCV001794296	uncertain significance	not provided	2023-05-22	criteria provided, single submitter	clinical testing	Also identified in a patient with isolated double-outlet right ventricle and inherited from an asymptomatic parent in the published literature (Goldmuntz et al., 2002); Observed in two unrelated patients with various laterality defects in published literature; one patient inherited the variant from an asymptomatic parent in addition to also having a variant in another heterotaxy-related gene (Bamford et al., 2000); Published in vitro functional studies in zebrafish demonstrate a damaging effect, as the c.522delC mutant was found to be absent from the cell surface and was unable to rescue MZoep mutant phenotype (Bamford et al., 2000); Frameshift variant predicted to result in protein truncation, as the last 49 amino acids are replaced with 55 different amino acids; This variant is associated with the following publications: (PMID: 11062482, 30293987, 31589614, 11799476, Maaged2022[Review])
Mendelics	RCV002247251	SCV002518070	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001570086	SCV004702075	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CFC1: BS1, BS2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000005497	SCV004807749	uncertain significance	Heterotaxy, visceral, 2, autosomal	2024-03-29	criteria provided, single submitter	clinical testing
OMIM	RCV000005497	SCV000025679	pathogenic	Heterotaxy, visceral, 2, autosomal	2002-03-01	no assertion criteria provided	literature only