ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5149T>C (p.Tyr1717His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002916793 SCV003656182 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.5149T>C (p.Y1717H) alteration is located in exon 14 (coding exon 14) of the F8 gene. This alteration results from a T to C substitution at nucleotide position 5149, causing the tyrosine (Y) at amino acid position 1717 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002020 SCV005627707 likely pathogenic Hereditary factor VIII deficiency disease 2024-04-12 criteria provided, single submitter clinical testing

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