ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)

gnomAD frequency: 0.00004  dbSNP: rs148904556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000362531 SCV000345788 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765689 SCV004567760 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-06-03 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 291093). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs148904556, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 3 of the ERCC4 protein (p.Ser3Leu).

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