ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)

dbSNP: rs118203334
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086659 SCV000552376 likely benign Tuberous sclerosis 1 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010401 SCV001170598 likely benign Hereditary cancer-predisposing syndrome 2022-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001086659 SCV002040183 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001086659 SCV004360837 uncertain significance Tuberous sclerosis 1 2023-02-21 criteria provided, single submitter clinical testing This missense variant replaces leucine with isoleucine at codon 41 of the TSC1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 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.
All of Us Research Program, National Institutes of Health RCV000054854 SCV004840568 uncertain significance Tuberous sclerosis syndrome 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces leucine with isoleucine at codon 41 of the TSC1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034600 SCV000043521 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC1) RCV000054854 SCV000065779 not provided Tuberous sclerosis syndrome no assertion provided curation

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