ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)

dbSNP: rs796053447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189809 SCV000243458 likely benign not specified 2013-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228527 SCV000284664 benign Tuberous sclerosis 1 2023-12-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228527 SCV002040470 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399706 SCV002712723 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-03 criteria provided, single submitter clinical testing The p.V352I variant (also known as c.1054G>A), located in coding exon 9 of the TSC1 gene, results from a G to A substitution at nucleotide position 1054. The valine at codon 352 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 RCV003996851 SCV004840490 uncertain significance Tuberous sclerosis syndrome 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 352 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 been identified in 1/251314 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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