ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.145C>G (p.Leu49Val)

dbSNP: rs2125061097
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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 RCV001991193 SCV002263747 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 49 of the JAGN1 protein (p.Leu49Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JAGN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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