ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.39G>A (p.Met13Ile)

dbSNP: rs2132296041
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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 RCV001371801 SCV001568382 uncertain significance Tuberous sclerosis 1 2022-05-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 13 of the TSC1 protein (p.Met13Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1062123).
Fulgent Genetics, Fulgent Genetics RCV002488173 SCV002790751 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-02-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006831 SCV004833428 uncertain significance Tuberous sclerosis syndrome 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces methionine with isoleucine at codon 13 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has not been identified 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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