ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3005C>T (p.Ser1002Phe)

dbSNP: rs748261129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691869 SCV000819665 benign Tuberous sclerosis 2 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025100 SCV005036393 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-10 criteria provided, single submitter clinical testing The p.S1002F variant (also known as c.3005C>T), located in coding exon 26 of the TSC2 gene, results from a C to T substitution at nucleotide position 3005. The serine at codon 1002 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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