ClinVar Miner

Submissions for variant NM_019616.4(F7):c.403G>A (p.Gly135Ser)

gnomAD frequency: 0.00004  dbSNP: rs763458490
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Total submissions: 2
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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 RCV002074465 SCV002320733 likely pathogenic Congenital factor VII deficiency 2022-01-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770388 SCV005380827 uncertain significance not specified 2024-08-08 criteria provided, single submitter clinical testing Variant summary: F7 c.469G>A (p.Gly157Ser) results in a non-conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 249296 control chromosomes (gnomAD v2). c.469G>A has been reported in the literature in multiple individuals affected with Congenital factor VII deficiency without reported genotypes (e.g. Guarnaccia_2009, Halimeh_2024, Priesler_2024), but with evidence of increased frequency in affected individuals (e.g. Priesler_2024) compared to controls (gnomAD) or in a compound heterozygote with a benign second variant (e.g. Alesci_2023). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 37521340, 19780835, 38202056, 22353194, 35552711, 38397060). ClinVar contains an entry for this variant (Variation ID: 1527890). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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