ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys)

gnomAD frequency: 0.00002  dbSNP: rs781202683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001868796 SCV002010244 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868796 SCV002268010 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 517 of the ERCC3 protein (p.Glu517Lys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ERCC3 protein function. ClinVar contains an entry for this variant (Variation ID: 1319554). This variant has not been reported in the literature in individuals affected with ERCC3-related conditions. This variant is present in population databases (rs781202683, gnomAD 0.04%).
Sema4, Sema4 RCV002256834 SCV002532606 uncertain significance Xeroderma pigmentosum 2021-10-02 criteria provided, single submitter curation

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