ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu)

gnomAD frequency: 0.00002  dbSNP: rs766473130
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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 RCV001362960 SCV001559025 uncertain significance Wiskott-Aldrich syndrome 2 2020-01-15 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with WIPF1-related conditions. This variant is present in population databases (rs766473130, ExAC 0.009%). This sequence change replaces proline with leucine at codon 9 of the WIPF1 protein (p.Pro9Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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