ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)

gnomAD frequency: 0.00001  dbSNP: rs1415705359
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808212 SCV000948308 likely benign Tuberous sclerosis 1 2023-08-01 criteria provided, single submitter clinical testing
GeneDx RCV002291701 SCV002584427 uncertain significance not provided 2022-04-14 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
Ambry Genetics RCV002370159 SCV002683453 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-06 criteria provided, single submitter clinical testing The p.S295T variant (also known as c.884G>C), located in coding exon 7 of the TSC1 gene, results from a G to C substitution at nucleotide position 884. The serine at codon 295 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.
Fulgent Genetics, Fulgent Genetics RCV002487737 SCV002791850 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-09-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803245 SCV005426979 uncertain significance Tuberous sclerosis syndrome 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 295 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251286 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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