ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)

gnomAD frequency: 0.00002  dbSNP: rs1365209491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593311 SCV000707657 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000700483 SCV000829240 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2023-04-24 criteria provided, single submitter clinical testing 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 serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 293 of the UBA1 protein (p.Ser293Asn). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 501333).

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