ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) (rs141591400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475162 SCV000548333 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2017-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 73 of the ERCC4 protein (p.Ile73Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs141591400, ExAC 0.04%). This variant has been reported in an individual affected with breast cancer (PMID: 24465539). ClinVar contains an entry for this variant (Variation ID: 134143). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ITMI RCV000120816 SCV000084981 not provided not specified 2013-09-19 no assertion provided reference population

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