ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.840-13A>G

gnomAD frequency: 0.00002  dbSNP: rs1563338476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001954953 SCV002199209 uncertain significance Werner syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the WRN gene. It does not directly change the encoded amino acid sequence of the WRN protein. This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424026). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). 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.

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