ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1763_1764AT[1] (p.Met589fs) (rs771968149)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652228 SCV000774096 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2017-12-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the POT1 gene (p.Met589Valfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acids of the POT1 protein. This variant is present in population databases (rs771968149, ExAC 0.009%). This variant has not been reported in the literature in individuals with POT1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in POT1 cause disease. 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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