ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)

dbSNP: rs773662047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220756 SCV001392765 benign Tuberous sclerosis 2 2022-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339583 SCV002643755 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing The p.S173F variant (also known as c.518C>T), located in coding exon 5 of the TSC2 gene, results from a C to T substitution at nucleotide position 518. The serine at codon 173 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.
All of Us Research Program, National Institutes of Health RCV004010736 SCV004833810 uncertain significance Tuberous sclerosis syndrome 2023-05-08 criteria provided, single submitter clinical testing

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