ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)

gnomAD frequency: 0.00001  dbSNP: rs1060503217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471719 SCV000552342 likely benign Tuberous sclerosis 1 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016836 SCV001177835 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-12 criteria provided, single submitter clinical testing The p.L965I variant (also known as c.2893T>A), located in coding exon 20 of the TSC1 gene, results from a T to A substitution at nucleotide position 2893. The leucine at codon 965 is replaced by isoleucine, an amino acid with highly similar 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.
Genome-Nilou Lab RCV000471719 SCV002040306 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002525597 SCV003194926 likely benign not provided 2023-01-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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