ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)

gnomAD frequency: 0.00001  dbSNP: rs753235037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644072 SCV000765762 benign Tuberous sclerosis 2 2023-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013270 SCV001173837 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The p.S608T variant (also known as c.1823G>C), located in coding exon 16 of the TSC2 gene, results from a G to C substitution at nucleotide position 1823. The serine at codon 608 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.
Genome-Nilou Lab RCV000644072 SCV002040643 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003986 SCV004838478 uncertain significance Tuberous sclerosis syndrome 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 608 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 2/250274 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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