ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer)

dbSNP: rs1555506395
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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 RCV000561852 SCV000664691 pathogenic Hereditary cancer-predisposing syndrome 2016-10-10 criteria provided, single submitter clinical testing The c.2102_2103delCT pathogenic mutation, located in coding exon 19 of the TSC2 gene, results from a deletion of two nucleotides at nucleotide positions 2102 to 2103, causing a translational frameshift with a predicted alternate stop codon. 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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