ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.777+3_777+6del

dbSNP: rs2147265717
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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 RCV001959541 SCV002254308 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-11-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1466589). This variant is also known as IVS8+1delGTGA. This variant has been observed in individual(s) with Wiskott-Aldrich syndrome (PMID: 10737997). This sequence change falls in intron 8 of the WAS gene. It does not directly change the encoded amino acid sequence of the WAS protein. It affects a nucleotide within the consensus splice site.

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