ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)

gnomAD frequency: 0.00001  dbSNP: rs778147657
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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 RCV000822458 SCV000963260 benign Tuberous sclerosis 2 2024-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001575055 SCV001801968 likely benign not provided 2019-10-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29632054)
Genome-Nilou Lab RCV000822458 SCV002039833 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332714 SCV002629983 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-10 criteria provided, single submitter clinical testing The p.P1401S variant (also known as c.4201C>T), located in coding exon 33 of the TSC2 gene, results from a C to T substitution at nucleotide position 4201. The proline at codon 1401 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV004002843 SCV004815196 uncertain significance Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 1401 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 tuberous sclerosis complex in the literature. This variant has been identified in 3/276254 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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