ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)

dbSNP: rs774980656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230019 SCV001402486 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327547 SCV002628790 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-26 criteria provided, single submitter clinical testing The p.A1467S variant (also known as c.4399G>T), located in coding exon 33 of the TSC2 gene, results from a G to T substitution at nucleotide position 4399. The alanine at codon 1467 is replaced by serine, an amino acid with similar properties. This amino acid position is well 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.

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