ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307996 SCV002604461 likely pathogenic Cockayne syndrome type 2 2022-03-03 criteria provided, single submitter clinical testing NM_000124.2(ERCC6):c.3571_3572ins5(A1191Dfs*12) 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.

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