ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)

gnomAD frequency: 0.00001  dbSNP: rs1373235682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701459 SCV000830260 likely benign Tuberous sclerosis 2 2023-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334351 SCV002645297 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter clinical testing The p.A1722V variant (also known as c.5165C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5165. The alanine at codon 1722 is replaced by valine, 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.
Fulgent Genetics, Fulgent Genetics RCV002493231 SCV002798202 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-20 criteria provided, single submitter clinical testing

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