ClinVar Miner

Submissions for variant NM_024818.6(UBA5):c.707del (p.Ala236fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785005 SCV005397387 pathogenic Developmental and epileptic encephalopathy, 44 2022-04-11 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide deletion (delG) in exon 8 of 12 of UBA5 and results in an early termition codon 9 amino acids downstream of the frameshift at Ala236. This variant is predicted to generate a non-functiol allele through either the expression of a truncated protein, or a loss of UBA5 expression due to nonsense mediated decay. This is a novel variant that has not been previously reported to clinical variant repositories (ClinVar) and is absent from control population datasets (gnomAD 0 of ~251000 alleles). Because truncating variants are a known mechanism of disease for UBA5 (PMID: 27545681), we consider this variant to be pathogenic. ACMG Criteria: PM2, PM3, PVS1

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