ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)

gnomAD frequency: 0.00001  dbSNP: rs776694051
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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 RCV001216992 SCV001388817 benign Tuberous sclerosis 1 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001751408 SCV001997459 uncertain significance not provided 2020-01-02 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 RCV001216992 SCV002039810 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163667 SCV003887356 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing The p.M1090V variant (also known as c.3268A>G), located in coding exon 21 of the TSC1 gene, results from an A to G substitution at nucleotide position 3268. The methionine at codon 1090 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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