ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1423A>G (p.Met475Val)

dbSNP: rs864309507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003258697 SCV003983480 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.1363A>G (p.M455V) alteration is located in exon 3 (coding exon 3) of the UBE3A gene. This alteration results from an A to G substitution at nucleotide position 1363, causing the methionine (M) at amino acid position 455 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000202490 SCV000257505 uncertain significance Autism 2010-05-20 no assertion criteria provided clinical testing

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