ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3934G>A (p.Val1312Met)

dbSNP: rs201584397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815948 SCV000956429 benign Tuberous sclerosis 2 2023-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372303 SCV002624312 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-17 criteria provided, single submitter clinical testing The p.V1312M variant (also known as c.3934G>A), located in coding exon 32 of the TSC2 gene, results from a G to A substitution at nucleotide position 3934. The valine at codon 1312 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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