ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.325G>A (p.Val109Met)

gnomAD frequency: 0.00003  dbSNP: rs369932305
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189956 SCV000243627 likely benign not specified 2014-02-11 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.
Invitae RCV000233520 SCV000285338 likely benign Tuberous sclerosis 2 2023-12-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000233520 SCV001481478 uncertain significance Tuberous sclerosis 2 2020-12-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000233520 SCV002041054 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321769 SCV002611124 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-12 criteria provided, single submitter clinical testing The p.V109M variant (also known as c.325G>A), located in coding exon 3 of the TSC2 gene, results from a G to A substitution at nucleotide position 325. The valine at codon 109 is replaced by methionine, 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.

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