ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1571G>A (p.Trp524Ter)

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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 RCV002851356 SCV003212145 pathogenic Tumor predisposition syndrome 3 2022-06-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POT1-related conditions. Studies have shown this premature translational stop signal is associated with skipping of exon 16, but one or more of the resulting mRNA isoform(s) may be naturally occurring (Invitae). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp524*) in the POT1 gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and may result in an absent or disrupted protein product.

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