ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.56A>G (p.His19Arg)

gnomAD frequency: 0.00001  dbSNP: rs748123071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214271 SCV001385946 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 19 of the JAGN1 protein (p.His19Arg). This variant is present in population databases (rs748123071, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with JAGN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 943976). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
3billion RCV001214271 SCV005328959 likely benign Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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