ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.910dup (p.Asp304fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV003315289 SCV004012926 likely pathogenic High-grade astrocytoma with piloid features 2021-05-26 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003746673 SCV004459064 pathogenic Tumor predisposition syndrome 3 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp304Glyfs*9) in the POT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POT1 are known to be pathogenic (PMID: 32155570). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2573128). For these reasons, this variant has been classified as Pathogenic.

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