ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.884T>C (p.Val295Ala)

gnomAD frequency: 0.00007  dbSNP: rs750064853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003875453 SCV004675763 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ASXL1-related conditions. This variant is present in population databases (rs750064853, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 295 of the ASXL1 protein (p.Val295Ala).

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