Submissions for variant NM_019616.4(F7):c.1085C>T (p.Thr362Met)

gnomAD frequency: 0.00008  dbSNP: rs531225271

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482463	SCV000568817	likely pathogenic	not provided	2024-09-18	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as T324M due to the use of alternate nomenclature; This variant is associated with the following publications: (PMID: 18976247, 25275492, 25828579, 19751712, 31589614, 32396910, 36073900, 27227566, 37647632, 28447100, 22327826, 36951360, 38202056)
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV001095705	SCV001251523	likely pathogenic	Factor VII deficiency		criteria provided, single submitter	research	The F7 (p.T384M) (also called p.T324M) variant has previously been reported in factor VII deficiency (PMID: 19751712; 25828579; 18976247).
Mayo Clinic Laboratories, Mayo Clinic	RCV000482463	SCV001715056	likely pathogenic	not provided	2020-04-06	criteria provided, single submitter	clinical testing	PM1, PM2, PP3, PP5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV003313784	SCV004013043	likely pathogenic	Congenital factor VII deficiency		criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003313784	SCV004041124	pathogenic	Congenital factor VII deficiency	2023-02-09	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003313784	SCV004807744	likely pathogenic	Congenital factor VII deficiency	2024-03-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005010392	SCV005632527	likely pathogenic	Myocardial infarction, susceptibility to; Congenital factor VII deficiency	2024-05-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752909	SCV005353332	likely pathogenic	F7-related disorder	2024-03-25	no assertion criteria provided	clinical testing	The F7 c.1151C>T variant is predicted to result in the amino acid substitution p.Thr384Met. This variant has also been described in the literature as p.Thr324Met. This variant has been reported in a cohort of individuals with factor VII deficiency (Herrmann et al. 2009. PubMed ID: 18976247). A second study showed that two individuals homozygous for this variant had moderately deficient levels of factor VII and were clinically asymptomatic (Patient 8 and 9, Mota et al. 2009. PubMed ID: 19751712). A synonymous variant at the same position c.1152G>A (p.Thr384Thr) and several additional variants in neighboring residues have been associated with factor VII deficiency (p.Met387Val, p.Met387Thr, p.Met387Ile, p.Phe388Tyr and p.Phe388Ser) (Herrmann et al. 2009. PubMed ID: 18976247; Table 1, Giansily-Blaizot et al. 2001. PubMed ID: 11313743; Elmahmoudi et al. 2012. PubMed ID: 22873696; Bharadwaj et al. 1996. PubMed ID: 8940045). This variant is reported in 0.049% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as likely pathogenic.