Submissions for variant NM_000133.4(F9):c.871G>C (p.Glu291Gln)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	RCV002776557	SCV003035437	pathogenic	Hereditary factor IX deficiency disease	2022-06-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004587379	SCV005075784	uncertain significance	not specified	2024-04-03	criteria provided, single submitter	clinical testing	Variant summary: F9 c.871G>C (p.Glu291Gln) results in a conservative amino acid change located in the Serine proteases, trypsin domain (IPR001254) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 179572 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.871G>C in individuals affected with Factor IX Deficiency (Hemophilia B) and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1992374). Based on the evidence outlined above, the variant was classified as uncertain significance.