ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)

gnomAD frequency: 0.00009  dbSNP: rs147458778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242009 SCV001415069 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 401 of the ERCC4 protein (p.Leu401Phe). This variant is present in population databases (rs147458778, gnomAD 0.01%). This missense change has been observed in individual(s) with lung cancer and two individuals affected with pancreatic adenocarcinoma (PMID: 16550608, 28767289). ClinVar contains an entry for this variant (Variation ID: 967171). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ERCC4 protein function. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238330 SCV002009713 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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