ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.141-2A>G

gnomAD frequency: 0.00001  dbSNP: rs768868045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017490 SCV002291972 likely pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the ASXL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ASXL1 are known to be pathogenic (PMID: 21706002). This variant is present in population databases (rs768868045, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ASXL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1501469). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004553624 SCV004716026 uncertain significance ASXL1-related disorder 2023-10-25 no assertion criteria provided clinical testing The ASXL1 c.141-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. Although the impact of this variant on splicing is cannot be predicted, exon skipping would result in a one amino acid inframe deletion. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-30955528-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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