ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs)

dbSNP: rs1555744175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521725 SCV000618579 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing The c.4211_4212delCA variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4211_4212delCA variant causes a frameshift starting with codon Threonine 1404, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Thr1404ArgfsX23. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4211_4212delCA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.4211_4212delCA as a pathogenic variant.
MGZ Medical Genetics Center RCV001265365 SCV002581187 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-10-25 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265365 SCV001443488 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2018-04-20 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-20 and interpreted as Pathogenic. Variant was initially reported on 2017-07-07 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
Genomics England Pilot Project, Genomics England RCV001265365 SCV001760429 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome no assertion criteria provided clinical testing

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