ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)

gnomAD frequency: 0.00004  dbSNP: rs782106589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001973997 SCV002264934 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2022-07-18 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1478041). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 589 of the UBA1 protein (p.Val589Ile). 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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