ClinVar Miner

Submissions for variant NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596405 SCV004265444 pathogenic Congenital factor V deficiency 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1634*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with factor V deficiency (PMID: 12816860). This variant is also known as p.Arg1606*. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004765874 SCV005376949 likely pathogenic not provided 2024-04-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33477601, 12816860)

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