Submissions for variant NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs)

dbSNP: rs1555912648

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000627531	SCV000748531	pathogenic	not provided	2024-09-30	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in abnormal protein length as the last 329 amino acids are replaced with 2 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000627531	SCV001447120	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004722989	SCV005340868	likely pathogenic	ASXL1-related disorder	2024-05-02	no assertion criteria provided	clinical testing	The ASXL1 c.3637_3640delCTCC variant is predicted to result in a frameshift and premature protein termination (p.Leu1213Ilefs*3). To our knowledge, this variant has not been reported in the literature in individuals with ASXL1-related disorders. This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in ASXL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.