ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.881T>C (p.Ile294Thr) (rs387906717)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000022859 SCV001141855 pathogenic X-linked severe congenital neutropenia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001058962 SCV001223565 pathogenic X-linked severe congenital neutropenia; X-linked thrombocytopenia with normal platelets; Wiskott-Aldrich syndrome 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 294 of the WAS protein (p.Ile294Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with neutropenia (PMID: 19006568, 16804117). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 29967). This variant has been reported to affect WAS protein function (PMID: 19006568, 16804117). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022859 SCV000044150 pathogenic X-linked severe congenital neutropenia 2009-01-01 no assertion criteria provided literature only

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