ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)

gnomAD frequency: 0.00031  dbSNP: rs778926161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480857 SCV000571324 likely pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270090 SCV001448905 likely pathogenic Pancytopenia-developmental delay syndrome 2019-12-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001270090 SCV002024508 likely pathogenic Pancytopenia-developmental delay syndrome 2019-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000480857 SCV002242873 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln18*) in the ERCC6L2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6L2 are known to be pathogenic (PMID: 24507776, 27185855, 29146883, 29987015). This variant is present in population databases (rs778926161, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ERCC6L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 421974). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV000480857 SCV002502602 likely pathogenic not provided 2022-03-22 criteria provided, single submitter clinical testing

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