ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)

dbSNP: rs587777728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab, Ludwig-Maximilians-University RCV000170602 SCV000223154 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
CeGaT Center for Human Genetics Tuebingen RCV001092960 SCV001249717 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000144163 SCV003525089 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2022-04-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 44 of the JAGN1 protein (p.His44Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with severe congenital neutropenia (PMID: 25851723, 32419428). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 156114). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV000144163 SCV000189243 pathogenic Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2014-09-01 no assertion criteria provided literature only

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