ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)

gnomAD frequency: 0.00005  dbSNP: rs150291286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340828 SCV001534658 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-03-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs150291286, gnomAD 0.008%). 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 not expected to disrupt ERCC4 protein function. ClinVar contains an entry for this variant (Variation ID: 1037640). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 517 of the ERCC4 protein (p.Glu517Lys).
Revvity Omics, Revvity RCV003145585 SCV003833579 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing

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