ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1805G>A (p.Trp602Ter)

dbSNP: rs996577534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062941 SCV001227767 uncertain significance Tumor predisposition syndrome 3 2019-12-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the POT1 gene (p.Trp602*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acids of the POT1 protein.

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