ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His)

gnomAD frequency: 0.00001  dbSNP: rs1203955457
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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 RCV003770288 SCV004631841 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 973055). This variant has not been reported in the literature in individuals affected with USP9X-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1891 of the USP9X protein (p.Asp1891His). 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 disruptive. 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.
GenomeConnect, ClinGen RCV001249400 SCV001423397 not provided Intellectual disability, X-linked 99 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09-04-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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