ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3658A>T (p.Ile1220Phe)

gnomAD frequency: 0.00003  dbSNP: rs761774988
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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 RCV003082632 SCV003483885 uncertain significance not provided 2024-04-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1220 of the ASXL1 protein (p.Ile1220Phe). This variant is present in population databases (rs761774988, gnomAD 0.01%). 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: 2168558). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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