ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2383C>G (p.Gln795Glu)

gnomAD frequency: 0.00004  dbSNP: rs374379051
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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 RCV003596663 SCV001045812 likely benign Congenital factor V deficiency 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454073 SCV002738380 uncertain significance Inborn genetic diseases 2023-10-23 criteria provided, single submitter clinical testing The p.Q795E variant (also known as c.2383C>G), located in coding exon 13 of the F5 gene, results from a C to G substitution at nucleotide position 2383. The glutamine at codon 795 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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