ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3039+1G>A

dbSNP: rs1555743003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625988 SCV000746593 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243217 SCV003940202 pathogenic Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.3039+1G>A intronic alteration results from a G to A substitution one nucleotide after coding exon 11 of the ASXL3 gene. This alteration occurs at the 3' terminus of the ASXL3 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 54% of the protein. The exact functional effect of this alteration is unknown; however the impacted region is critical for protein function and a significant portion of the protein is affected (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in multiple individuals with clinical findings consistent with with Bainbridge–Ropers syndrome (Hori, 2016; Turner, 2019). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Based on the available evidence, this alteration is classified as pathogenic.
GenomeConnect - Simons Searchlight RCV000625988 SCV001443169 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2018-04-27 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-27 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-10-08 by GTR ID of laboratory name 280848. The reporting laboratory might also submit to ClinVar.

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