ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.806C>A (p.Ala269Asp)

dbSNP: rs1347033062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069395 SCV001234559 likely benign Tuberous sclerosis 1 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307930 SCV003993306 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.A269D variant (also known as c.806C>A), located in coding exon 7 of the TSC1 gene, results from a C to A substitution at nucleotide position 806. The alanine at codon 269 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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