ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)

gnomAD frequency: 0.00001  dbSNP: rs1167362899
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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 RCV000547456 SCV000641630 benign Tuberous sclerosis 1 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019199 SCV001180527 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-14 criteria provided, single submitter clinical testing The p.M1067R variant (also known as c.3200T>G), located in coding exon 21 of the TSC1 gene, results from a T to G substitution at nucleotide position 3200. The methionine at codon 1067 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly 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.
Genome-Nilou Lab RCV000547456 SCV002040006 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999220 SCV004837721 uncertain significance Tuberous sclerosis syndrome 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces methionine with arginine at codon 1067 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 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.

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