ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4128del (p.Gly1377fs)

dbSNP: rs766643585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700729 SCV000829498 uncertain significance Werner syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1377Valfs*16) in the WRN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the WRN protein. This variant is present in population databases (rs766643585, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with osteosarcoma (PMID: 32191290). ClinVar contains an entry for this variant (Variation ID: 577873). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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