ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala)

dbSNP: rs2105796927
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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 RCV001999270 SCV002287430 uncertain significance Wiskott-Aldrich syndrome 2 2022-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 435 of the WIPF1 protein (p.Thr435Ala).

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