ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)

gnomAD frequency: 0.00001  dbSNP: rs780378198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644115 SCV000765805 likely benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424464 SCV002731311 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-06 criteria provided, single submitter clinical testing The p.Y336C variant (also known as c.1007A>G), located in coding exon 10 of the TSC2 gene, results from an A to G substitution at nucleotide position 1007. The tyrosine at codon 336 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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