ClinVar Miner

Submissions for variant NM_019616.4(F7):c.196C>T (p.Arg66Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003993610 SCV004809650 likely pathogenic Congenital factor VII deficiency 2024-04-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690502 SCV005184662 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing Variant summary: F7 c.262C>T (p.Arg88Trp) results in a non-conservative amino acid change located in the Gamma-carboxyglutamic acid-rich (GLA) domain (IPR000294) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 167586 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.262C>T in individuals affected with Congenital factor VII deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV004790652 SCV005409655 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing PM1_supporting, PM2_moderate

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