Submissions for variant NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)

gnomAD frequency: 0.00003  dbSNP: rs773254902

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	RCV001733512	SCV005367707	uncertain significance	Hereditary antithrombin deficiency	2024-07-03	reviewed by expert panel	curation	The c.100G>A (NM_000488.3) variant in SERPINC1 is a missense variant predicted to cause substitution of glycine by arginine at amino acid 6 (p.Gly34Arg). The computational predictor REVEL gives a score of 0.115, which is below the threshold of 0.3, and the splice site predictor Splice AI indicate that the variant has no impact on splicing, which suggests that the variant does not impact SERPINC1 function (BP4). In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for AT Deficiency for SERPINC1: BP4.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001733512	SCV001984008	uncertain significance	Hereditary antithrombin deficiency	2019-12-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001733512	SCV002791820	uncertain significance	Hereditary antithrombin deficiency	2021-09-21	criteria provided, single submitter	clinical testing