ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)

dbSNP: rs397514784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793584 SCV000932945 likely benign Tuberous sclerosis 1 2024-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000793584 SCV002039968 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001574 SCV004840544 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing This missense variant replaces glycine with alanine at codon 132 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 TSC1-related disorders in the literature. This variant has been identified in 1/251392 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.
Ambry Genetics RCV004027447 SCV005035023 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing The p.G132A variant (also known as c.395G>C), located in coding exon 4 of the TSC1 gene, results from a G to C substitution at nucleotide position 395. The glycine at codon 132 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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