ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)

gnomAD frequency: 0.00004  dbSNP: rs749326176
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473435 SCV000544454 likely benign Tuberous sclerosis 2 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023737 SCV001185652 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The p.P1737L variant (also known as c.5210C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5210. The proline at codon 1737 is replaced by leucine, an amino acid with similar properties. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex however they were also found to carry TSC1 c.363+2G>T (Togi S et al. Int J Mol Sci, 2022 Sep;23:). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001546269 SCV001765761 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000473435 SCV002040262 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV000473435 SCV002559799 likely pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing According to ACMG GL 2015, this variant located in the GAP domain (PM1), assumed de novo (PM6), multiple lines of computational evidence support a deleterious effect (PP3), and detected in the patient with clinically definitive tuberous sclerosis complex (PP4).
CeGaT Center for Human Genetics Tuebingen RCV001546269 SCV004129883 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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