ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1672dup (p.Tyr558fs)

dbSNP: rs2116414744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363810 SCV001559937 pathogenic Tumor predisposition syndrome 3 2023-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POT1-related conditions. This sequence change creates a premature translational stop signal (p.Tyr558Leufs*6) 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). ClinVar contains an entry for this variant (Variation ID: 1055178). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002404862 SCV002704450 pathogenic Hereditary cancer-predisposing syndrome 2023-03-16 criteria provided, single submitter clinical testing The c.1672dupT pathogenic mutation, located in coding exon 13 of the POT1 gene, results from a duplication of T at nucleotide position 1672, causing a translational frameshift with a predicted alternate stop codon (p.Y558Lfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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