ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.2575A>G (p.Met859Val)

gnomAD frequency: 0.00001  dbSNP: rs782649232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312347 SCV001502795 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 859 of the UBA1 protein (p.Met859Val). This variant is present in population databases (rs782649232, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1013720). 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: "Benign"; 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.

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