ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.632-1G>C

dbSNP: rs398124177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081156 SCV000113064 pathogenic not provided 2012-10-30 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760975 SCV000890880 pathogenic Coffin-Lowry syndrome 2016-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514431 SCV003555482 likely pathogenic Inborn genetic diseases 2021-01-07 criteria provided, single submitter clinical testing The c.632-1G>C intronic alteration results from of a G to C substitution one nucleotide before coding exon 9 of the RPS6KA3 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the RPS6KA3 c.632-1G>C alteration was not observed, with coverage at this position. An alteration affecting the same nucleotide, c.632-1G>T, was reported in a patient with clinical features suggestive of Coffin-Lowry syndrome (Jacquot, 1998). The c.632-1G nucleotide is conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Based on the available evidence, this alteration is classified as likely pathogenic.

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