ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer)

dbSNP: rs1584777802
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013207 SCV001173759 pathogenic Hereditary cancer-predisposing syndrome 2019-12-19 criteria provided, single submitter clinical testing The c.181_182delCTins27 variant, located in coding exon 3 of the POT1 gene, results from the deletion of two nucleotides and insertion of 27 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L61Efs*7). 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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