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 2024-11-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 845 amino acid(s) are replaced with 22 different amino acid(s), and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982159, 34758253, 33057194, 34615535)
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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