ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2743_2744del (p.Thr915fs)

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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 RCV003596843 SCV004293801 pathogenic Congenital factor V deficiency 2023-02-16 criteria provided, single submitter clinical testing This variant is also known as Frameshift, stop at 900. For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Factor V deficiency (PMID: 11167768). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr915Trpfs*14) 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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