ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1600C>T (p.Arg534Ter)

gnomAD frequency: 0.00001  dbSNP: rs770011773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003762092 SCV002228432 pathogenic Congenital factor V deficiency 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452773). This premature translational stop signal has been observed in individual(s) with clinical features of F5-related conditions (PMID: 29082580). This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change creates a premature translational stop signal (p.Arg534*) in the F5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F5 are known to be pathogenic (PMID: 30924984).

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