ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn)

gnomAD frequency: 0.00002  dbSNP: rs371131434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647681 SCV001857038 benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001647681 SCV003473355 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1163 of the ASXL1 protein (p.Asp1163Asn). This variant is present in population databases (rs371131434, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. 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: 1241831). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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