ClinVar Miner

Submissions for variant NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)

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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 RCV003596842 SCV004293799 pathogenic Congenital factor V deficiency 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1030*) 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). This variant is present in population databases (rs780253174, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with clinical features of factor V deficiency (PMID: 12816860, 31399523). This variant is also known as p.Arg1002ter. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004753692 SCV005365492 likely pathogenic F5-related disorder 2024-08-23 no assertion criteria provided clinical testing The F5 c.3088C>T variant is predicted to result in premature protein termination (p.Arg1030*). This variant was reported in the compound heterozygous state in an individual with Factor V deficiency (Reported as p.Arg1002* in Patient 6, Montefusco et al. 2003. PubMed ID: 12816860). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in F5 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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