ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.532G>T (p.Val178Leu) (rs149927607)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536696 SCV000654065 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2018-07-08 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 178 of the ERCC4 protein (p.Val178Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs149927607, ExAC 0.05%). This variant has been observed in an individual affected with pancreatic ductal adenocarcinoma  (PMID: 28767289). ClinVar contains an entry for this variant (Variation ID: 474207). 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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