ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu)

dbSNP: rs770870596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986890 SCV002280056 uncertain significance Wiskott-Aldrich syndrome 2 2021-04-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WIPF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. This variant is present in population databases (rs770870596, ExAC no frequency). This sequence change replaces proline with leucine at codon 378 of the WIPF1 protein (p.Pro378Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001986890 SCV003920626 uncertain significance Wiskott-Aldrich syndrome 2 2022-04-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest MAF: 0.03% [1/34380] https://gnomad.broadinstitute.org/variant/2-175432798-G-A?dataset=gnomad_r2_1) and in ClinVar (Variation ID:1493985). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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