ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1065dup (p.Ala356fs)

dbSNP: rs1225878757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091003 SCV001246826 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001368415 SCV001564810 pathogenic Tumor predisposition syndrome 3 2021-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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: 871194). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala356Serfs*15) 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 RCV002411626 SCV002723392 pathogenic Hereditary cancer-predisposing syndrome 2021-08-13 criteria provided, single submitter clinical testing The c.1065dupA pathogenic mutation, located in coding exon 9 of the POT1 gene, results from a duplication of A at nucleotide position 1065, causing a translational frameshift with a predicted alternate stop codon (p.A356Sfs*15). 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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