ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)

gnomAD frequency: 0.00031  dbSNP: rs373524969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865882 SCV001006908 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2023-12-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816974 SCV002070130 uncertain significance not specified 2020-02-14 criteria provided, single submitter clinical testing DNA sequence analysis of the WAS gene demonstrated a sequence change, c.1181C>T, in exon 10 that results in an amino acid change, p.Pro394Leu. This sequence change has been described in the gnomAD database with a frequency of 0.12% in the African sub-population (dbSNP rs373524969). The p.Pro394Leu change has been identified in a patient with primary immunodeficiency disease (PMID: 27577878). The p.Pro394Leu change affects a highly conserved amino acid residue located in a domain of the WAS protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Pro394Leu substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Pro394Leu change remains unknown at this time.

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