ClinVar Miner

Submissions for variant NM_000133.4(F9):c.944A>G (p.Asp315Gly)

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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 RCV003783789 SCV004571470 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-08-25 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt F9 protein function. This variant is also known as 269D>G. This missense change has been observed in individuals with hemophilia B (PMID: 7937052, 19699296, 22544209). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 315 of the F9 protein (p.Asp315Gly). For these reasons, this variant has been classified as Pathogenic.

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