ClinVar Miner

Submissions for variant NM_000132.4(F8):c.3946A>G (p.Ile1316Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004977405 SCV005584252 uncertain significance Inborn genetic diseases 2024-12-05 criteria provided, single submitter clinical testing The c.3946A>G (p.I1316V) 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 3946, causing the isoleucine (I) at amino acid position 1316 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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