ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.711_712delinsAC (p.Ser237_Phe238delinsArgLeu)

dbSNP: rs1795355784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203305 SCV001374462 uncertain significance Tumor predisposition syndrome 3 2019-09-02 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change deletes 2 nucleotides and inserts 2 different nucleotides in exon 10 of the POT1 mRNA (c.711_712delinsAC). This results in the replacement of 2 adjacent amino acids at codons 237 and 238 with 2 different amino acids (p.Ser237_Phe238delinsArgLeu).

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