ClinVar Miner

Submissions for variant NM_019616.4(F7):c.974del (p.Leu325fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596705 SCV005088875 likely pathogenic Congenital factor VII deficiency 2021-01-23 criteria provided, single submitter clinical testing This variant is predicted to cause a frameshift and consequent premature termination of the protein (p. Leu347ArgfsTer19) and this will likely result in loss-of-function. The variant seems to be a novel variant, as it has not been previously reported in population or public databases or in the literature. However, in the ClinVar database another truncating variants lying downstream of the variant, has been previously reported as ‘likely pathogenic’ in the context of Factor VII deficiency and abnormal bleeding.

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