ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)

dbSNP: rs781821596
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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 RCV001949847 SCV002206096 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2021-11-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 126 of the UBA1 protein (p.Asn126Ser). This variant is not present in population databases (gnomAD no frequency). 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: "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.

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