ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4191+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1279354218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035661 SCV001198995 uncertain significance Werner syndrome 2021-11-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 34 of the WRN gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (no rsID available, gnomAD 0.01%). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: 834886). 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.
Fulgent Genetics, Fulgent Genetics RCV001035661 SCV005679038 likely pathogenic Werner syndrome 2024-03-26 criteria provided, single submitter clinical testing

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