ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)

gnomAD frequency: 0.00004  dbSNP: rs762052950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237489 SCV001410250 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 331 of the ERCC4 protein (p.Ser331Thr). This variant is present in population databases (rs762052950, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. ClinVar contains an entry for this variant (Variation ID: 963460). 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. 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.
Baylor Genetics RCV001294210 SCV001483052 uncertain significance Fanconi anemia complementation group Q 2020-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001294210 SCV002512466 uncertain significance Fanconi anemia complementation group Q 2022-01-04 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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