ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5037dup (p.Ser1680fs)

dbSNP: rs754982088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494266 SCV000582769 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12816860)
Labcorp Genetics (formerly Invitae), Labcorp RCV003596008 SCV004293797 pathogenic Congenital factor V deficiency 2023-05-11 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: 430053). This premature translational stop signal has been observed in individual(s) with autosomal recessive factor V deficiency (PMID: 12816860). This variant is present in population databases (rs754982088, gnomAD 0.05%). This sequence change creates a premature translational stop signal (p.Ser1680Ilefs*8) 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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