ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly)

dbSNP: rs943577194
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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 RCV001364704 SCV001560865 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2020-05-13 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JAGN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 15 of the JAGN1 protein (p.Ser15Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. 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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