ClinVar Miner

Submissions for variant NM_000130.5(F5):c.4096del (p.Leu1366fs)

dbSNP: rs1659825695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, West China Hospital, Sichuan University RCV001256184 SCV001422497 pathogenic Factor V deficiency criteria provided, single submitter clinical testing A homozygous frameshift variant of c.4096delC (p.Leu1366Phefs*3) was identified in the F5 gene in the patient with inherited Coagulation Factor V deficiency, which was confirmed as having been transmitted from the consanguineous parents. The F5 variation may generate a truncated FV protein in which the essential light chain of FVa was lost.

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