ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu)

gnomAD frequency: 0.00004  dbSNP: rs368413950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691945 SCV000819744 uncertain significance Dowling-Degos disease 2 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 30 of the POFUT1 protein (p.Asp30Glu). This variant is present in population databases (rs368413950, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POFUT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570946). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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