ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer)

dbSNP: rs2130229490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563583 SCV001786556 likely pathogenic Werner syndrome 2021-03-05 criteria provided, single submitter clinical testing The WRN c.2031_2032delGC (p.His678Ter) variant is a stop-gained variant that is predicted to result in a premature termination. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the available information and application of the ACMG criteria, the p.His678Ter variant is classified as likely pathogenic for Werner syndrome.

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