ClinVar Miner

Submissions for variant NM_000133.4(F9):c.723G>A (p.Gln241=)

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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 RCV003783788 SCV004571489 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-03-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 35391506). This variant has been observed in individuals with hemophilia B (PMID: 8680410, 24375831, 35391506). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 241 of the F9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the F9 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon.

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