ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.827T>C (p.Met276Thr)

gnomAD frequency: 0.00001  dbSNP: rs1281538226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705751 SCV000834764 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303190 SCV003998269 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-25 criteria provided, single submitter clinical testing The p.M276T variant (also known as c.827T>C), located in coding exon 8 of the TSC2 gene, results from a T to C substitution at nucleotide position 827. The methionine at codon 276 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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