ClinVar Miner

Submissions for variant NC_000008.11:g.(?_31172985)_(31173112_?)del

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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 RCV000799428 SCV000939089 uncertain significance Werner syndrome 2018-08-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 35 of the WRN gene. The 5' boundary is likely confined to intron 34. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Similar deletions have not been reported in the literature in individuals with WRN-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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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