ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)

gnomAD frequency: 0.00001  dbSNP: rs1340754747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294508 SCV001483388 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 316 of the ERCC4 protein (p.Thr316Met). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 998622). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions.
Sema4, Sema4 RCV002258184 SCV002537963 uncertain significance Xeroderma pigmentosum 2022-02-14 criteria provided, single submitter curation

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