ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe)

dbSNP: rs1330915229
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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 RCV001059042 SCV001223646 benign Tuberous sclerosis 2 2025-01-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000108 SCV004831215 uncertain significance Tuberous sclerosis syndrome 2023-04-10 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 1277 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 1/250368 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.
Ambry Genetics RCV004678934 SCV005181151 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-18 criteria provided, single submitter clinical testing The p.S1277F variant (also known as c.3830C>T), located in coding exon 31 of the TSC2 gene, results from a C to T substitution at nucleotide position 3830. The serine at codon 1277 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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