ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2732A>G (p.Asp911Gly)

gnomAD frequency: 0.00001  dbSNP: rs782671808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757931 SCV001987916 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477927 SCV002781838 uncertain significance Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163824 SCV003880777 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.2732A>G (p.D911G) alteration is located in exon 14 (coding exon 14) of the F8 gene. This alteration results from a A to G substitution at nucleotide position 2732, causing the aspartic acid (D) at amino acid position 911 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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