ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1267G>A (p.Glu423Lys)

gnomAD frequency: 0.00113  dbSNP: rs3093248
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113153 SCV001270902 uncertain significance Factor VII deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001508718 SCV001715057 uncertain significance not provided 2021-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497523 SCV002802080 uncertain significance Myocardial infarction, susceptibility to; Congenital factor VII deficiency 2022-04-25 criteria provided, single submitter clinical testing
GeneDx RCV001508718 SCV003837481 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing Reported in individuals with significantly lower plasma factor VII levels (Huffman et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 18976247, 26105150)
PreventionGenetics, part of Exact Sciences RCV003953484 SCV004780603 uncertain significance F7-related disorder 2024-08-05 no assertion criteria provided clinical testing The F7 c.1333G>A variant is predicted to result in the amino acid substitution p.Glu445Lys. This variant has been reported in a male individual with a mild F7 deficiency (Cutler et al. 2005. PubMed ID: 15741795). It has also been reported in cohort studies of Factor VII deficiency (Described as Gly385Lys, Herrmann et al. 2009. PubMed ID: 18976247; Huffman et al. 2015. PubMed ID: 26105150). This variant is reported in 0.33% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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