ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)

dbSNP: rs45517332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852896 SCV002157605 benign Tuberous sclerosis 2 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326761 SCV002630094 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-22 criteria provided, single submitter clinical testing The p.V1407L variant (also known as c.4219G>C), located in coding exon 33 of the TSC2 gene, results from a G to C substitution at nucleotide position 4219. The valine at codon 1407 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Tuberous sclerosis database (TSC2) RCV000043078 SCV000066877 not provided Tuberous sclerosis syndrome no assertion provided curation

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