ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)

gnomAD frequency: 0.00001  dbSNP: rs753596005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220164 SCV001392140 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2019-06-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 11 of the ERCC4 protein (p.Ala11Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs753596005, ExAC 0.01%). This variant has not been reported in the literature in individuals with ERCC4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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