ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.163A>T (p.Met55Leu)

dbSNP: rs1311043090
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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 RCV002003421 SCV002269947 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2021-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JAGN1-related conditions. This sequence change replaces methionine with leucine at codon 55 of the JAGN1 protein (p.Met55Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency). 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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