ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)

gnomAD frequency: 0.00002  dbSNP: rs745871522
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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 RCV000642038 SCV000763691 benign Tuberous sclerosis 1 2024-09-29 criteria provided, single submitter clinical testing
GeneDx RCV001584479 SCV001820256 uncertain significance not provided 2019-10-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000642038 SCV002040169 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343282 SCV002620600 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The p.T124A variant (also known as c.370A>G), located in coding exon 4 of the TSC1 gene, results from an A to G substitution at nucleotide position 370. The threonine at codon 124 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003966 SCV004840546 uncertain significance Tuberous sclerosis syndrome 2024-07-20 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 124 of the TSC1 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 hereditary cancer in the literature. This variant has been identified in 1/251386 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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