ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)

dbSNP: rs2062429013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041620 SCV001205244 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg364*) in the WAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wiskott-Aldrichsyndrome and isolated thromobocytopenia (PMID: 10447259, 21185603). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 839782). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091017 SCV001246841 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001041620 SCV002788587 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-05-16 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV001041620 SCV004804623 not provided X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-23-2017 by Baylor Genetics. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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