ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)

gnomAD frequency: 0.00008  dbSNP: rs373305404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931121 SCV001076785 benign Infantile-onset X-linked spinal muscular atrophy 2022-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382109 SCV002671658 uncertain significance Inborn genetic diseases 2019-11-20 criteria provided, single submitter clinical testing The p.G415R variant (also known as c.1243G>A), located in coding exon 11 of the UBA1 gene, results from a G to A substitution at nucleotide position 1243. The glycine at codon 415 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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