ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.190A>G (p.Ile64Val)

dbSNP: rs397515081
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644085 SCV000765775 benign Tuberous sclerosis 2 2023-11-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118864 SCV001277179 uncertain significance Tuberous sclerosis syndrome 2018-03-02 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV000644085 SCV002040530 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408557 SCV002717925 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-31 criteria provided, single submitter clinical testing The p.I64V variant (also known as c.190A>G), located in coding exon 2 of the TSC2 gene, results from an A to G substitution at nucleotide position 190. The isoleucine at codon 64 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not 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.
Baylor Genetics RCV003466927 SCV004205092 uncertain significance Isolated focal cortical dysplasia type II 2023-05-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001118864 SCV004831177 uncertain significance Tuberous sclerosis syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 64 of the TSC2 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 TSC2-related disorders in the literature. This variant has been identified in 1/251140 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.
Tuberous sclerosis database (TSC2) RCV000055320 SCV000083540 not provided Autism spectrum disorder no assertion provided curation

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