ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)

gnomAD frequency: 0.00004  dbSNP: rs377495463
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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 RCV000700731 SCV000829500 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2022-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 24 of the JAGN1 protein (p.Ala24Val). This variant is present in population databases (rs377495463, gnomAD 0.009%). 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: 577875). 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: "Probably Damaging"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792407 SCV005409135 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing

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