ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.1881G>C (p.Met627Ile)

gnomAD frequency: 0.00005  dbSNP: rs201651879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226119 SCV002504478 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002226119 SCV005720597 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 627 of the USP9X protein (p.Met627Ile). This variant is present in population databases (rs201651879, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 33023636). ClinVar contains an entry for this variant (Variation ID: 1678805). 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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