ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.273+1G>A

dbSNP: rs1064794076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483001 SCV000567741 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The c.273+1 G>A splice site variant in the WAS gene has been previously reported in association with Wiskott-Aldrich Syndrome (Jin et al., 2004). This variant destroys the canonical splice donor site in intron 2, and is expected to cause abnormal gene splicing. c.273+1 G>A was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.273+1 G>A as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005222958 SCV005863663 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-08-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the WAS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Wiskott-Aldrich syndrome (PMID: 15284122). ClinVar contains an entry for this variant (Variation ID: 419739). 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.

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