Submissions for variant NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)

dbSNP: rs786204063

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000167937	SCV000218585	pathogenic	Hereditary antithrombin deficiency	2015-06-06	criteria provided, single submitter	clinical testing	This sequence change deletes 3 nucleotides in exon 3 of the SERPINC1 mRNA (c.462_464delCTT ). This leads to the  deletion of one phenylalanine residue in the SERPINC1 protein (p.Phe155del) but otherwise preserves the integrity of the reading frame. This variant has been reported in the literature in individuals affected with type I antithrombin deficiency (PMID: 8217824, 9701453,8401542), and is not present in population databases. In the affected individuals reported to carry this in-frame deletion, the activity of ATIII was reduced 47 to 62% of normal  (PMID: 8217824, 9701453,8401542). In the literature, this variant is also known as c.5356_5364delCTT. In summary, this small deletion is absent from the general population and reported in individuals affected with type I antithrombin deficiency. For these reasons, it has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV004791303	SCV005414039	likely pathogenic	not provided	2024-03-29	criteria provided, single submitter	clinical testing	PM2_moderate, PM4, PS4_moderate