ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)

dbSNP: rs587777731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab, Ludwig-Maximilians-University RCV000170607 SCV000223159 pathogenic Severe congenital neutropenia 2013-01-01 criteria provided, single submitter in vitro Neutropenia patients with mutations in JAGN1 respond poorly to treatment with recombinant human G-CSF
Labcorp Genetics (formerly Invitae), Labcorp RCV000144166 SCV002130566 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2022-04-25 criteria provided, single submitter clinical testing This variant, c.35_43del, results in the deletion of 3 amino acid(s) of the JAGN1 protein (p.Thr12_Gly14del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752053703, gnomAD 0.002%). This variant has been observed in individual(s) with neutropenia (PMID: 25129144). ClinVar contains an entry for this variant (Variation ID: 156117). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
OMIM RCV000144166 SCV000189246 pathogenic Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2014-09-01 no assertion criteria provided literature only

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