ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3518C>T (p.Thr1173Ile)

gnomAD frequency: 0.00001  dbSNP: rs2089969949
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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 RCV001208282 SCV001379661 uncertain significance Tuberous sclerosis 2 2024-06-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1173 of the TSC2 protein (p.Thr1173Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 938968). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV001208282 SCV001441341 uncertain significance Tuberous sclerosis 2 2020-02-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001208282 SCV002040780 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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