ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.751G>T (p.Glu251Ter)

dbSNP: rs1114167465
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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 RCV000491270 SCV000579601 pathogenic Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing The p.E251* pathogenic mutation (also known as c.751G>T), located in coding exon 7 of the TSC2 gene, results from a G to T substitution at nucleotide position 751. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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