ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1340G>A (p.Arg447His)

gnomAD frequency: 0.13373  dbSNP: rs2070169
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293475 SCV000482379 benign Infantile-onset X-linked spinal muscular atrophy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000428872 SCV000519653 benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000293475 SCV001717687 benign Infantile-onset X-linked spinal muscular atrophy 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000293475 SCV002514953 benign Infantile-onset X-linked spinal muscular atrophy 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000428872 SCV004233487 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied by a panel of primary immunodeficiencies. Number of patients: 40. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004713891 SCV005277667 benign not provided criteria provided, single submitter not provided

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