ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys)

gnomAD frequency: 0.00001  dbSNP: rs374598314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244790 SCV001418034 uncertain significance Wiskott-Aldrich syndrome 2 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 200 of the WIPF1 protein (p.Asn200Lys). This variant is present in population databases (rs374598314, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969439). 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: "Possibly 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.

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