ClinVar Miner

Submissions for variant NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) (rs750318549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489373 SCV000577504 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing The c.1934dupG variant in the ASXL1 gene has not been reported previously as a pathogenic germline variant nor as a benign variant, to our knowledge. However, c.1934dupG has been reported as a somatic variant in myeloid malignancies (Carlston et al., 2017). The c.1934dupG variant causes a frameshift starting with codon Glycine 646, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Gly646TrpfsX12. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 896 amino acids of the protein are replaced by 11 incorrect amino acids. The c.1934dupG variant is observed in 95/43458 (0.21%) alleles from individuals of non-Finnish European background in the ExAC dataset; however, this variant was only observed in samples from individuals affected with cancer (Lek et al., 2016). This variant has not been detected in presumably healthy individuals tested at GeneDx. We interpret c.1934dupG as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677687 SCV000803831 likely pathogenic Bohring-Opitz syndrome 2015-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677687 SCV001526547 pathogenic Bohring-Opitz syndrome 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526628 SCV001737058 likely pathogenic Abnormality of brain morphology criteria provided, single submitter clinical testing

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