ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.70_76del (p.Ala24fs)

dbSNP: rs2082557086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218703 SCV001390599 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2019-05-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with JAGN1-related conditions. This sequence change results in a premature translational stop signal in the JAGN1 gene (p.Ala24Thrfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 160 amino acids of the JAGN1 protein.

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