ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.552G>A (p.Trp184Ter)

dbSNP: rs1202302799
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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 RCV001024236 SCV001186218 pathogenic Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing The p.W184* pathogenic mutation (also known as c.552G>A), located in coding exon 5 of the POT1 gene, results from a G to A substitution at nucleotide position 552. This changes the amino acid from a tryptophan to a stop codon within coding exon 5. 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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