ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1615C>T (p.Gln539Ter)

dbSNP: rs2116415082
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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 RCV001901143 SCV002160458 pathogenic Tumor predisposition syndrome 3 2023-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1395307). This variant has not been reported in the literature in individuals affected with POT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln539*) 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).
Ambry Genetics RCV002397857 SCV002705273 pathogenic Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The p.Q539* variant (also known as c.1615C>T), located in coding exon 13 of the POT1 gene, results from a C to T substitution at nucleotide position 1615. This changes the amino acid from a glutamine to a stop codon within coding exon 13. 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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