ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1007-8C>T

dbSNP: rs375482256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652237 SCV000774105 likely benign Tumor predisposition syndrome 3 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001731845 SCV001982457 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001731845 SCV005626189 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing The POT1 c.1007-8C>T variant has not been reported in individuals with POT1-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect POT1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV003918071 SCV004727770 likely benign POT1-related disorder 2022-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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