ClinVar Miner

Submissions for variant NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699693 SCV005203443 pathogenic Congenital factor V deficiency 2024-07-18 criteria provided, single submitter clinical testing Variant summary: F5 c.6604C>T (p.Arg2202Cys; also reported as p.Arg2174Cys in the literature) results in a non-conservative amino acid change located in the coagulation factor 5/8 C-terminal domain (IPR000421) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 250936 control chromosomes (gnomAD). c.6604C>T has been reported in the literature in multiple individuals including homozygotes affected with autosomal recessive congenital Factor V Deficiency (example: Al Numair_2019, Baz_2021, Dan Huang_2010, Hun Park_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has 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 pathogenic.

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