ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)

gnomAD frequency: 0.00003  dbSNP: rs397514887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221766 SCV000278472 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-07 criteria provided, single submitter clinical testing The p.S1094W variant (also known as c.3281C>G), located in coding exon 27 of the TSC2 gene, results from a C to G substitution at nucleotide position 3281. The serine at codon 1094 is replaced by tryptophan, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001341323 SCV001535191 benign Tuberous sclerosis 2 2023-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001341323 SCV002040756 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002251447 SCV002522044 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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