ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1040del (p.Gly347fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306938 SCV002604034 likely pathogenic Cockayne syndrome type 2 2022-04-26 criteria provided, single submitter clinical testing NM_000124.2(ERCC6):c.1040delG(G347Dfs*13) is expected to be pathogenic in the context of ERCC6-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ERCC6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099159 SCV003478957 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly347Aspfs*13) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252).

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