ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1370-8_1370-6del

dbSNP: rs1158098049
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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 RCV000545895 SCV000655143 uncertain significance Tumor predisposition syndrome 3 2024-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the POT1 gene. It does not directly change the encoded amino acid sequence of the POT1 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 475042). Studies have shown that this variant is associated with inconclusive levels of altered splicing (internal data). 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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