ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.16C>G (p.Pro6Ala)

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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 RCV005108285 SCV005728410 uncertain significance Wiskott-Aldrich syndrome 2 2024-06-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 6 of the WIPF1 protein (p.Pro6Ala). This variant is present in population databases (rs200376655, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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