ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.365T>A (p.Leu122His)

dbSNP: rs756263581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822531 SCV000963340 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453897 SCV002613481 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-11 criteria provided, single submitter clinical testing The p.L122H variant (also known as c.365T>A), located in coding exon 4 of the TSC2 gene, results from a T to A substitution at nucleotide position 365. The leucine at codon 122 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495179 SCV002804076 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-21 criteria provided, single submitter clinical testing

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