ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)

dbSNP: rs1845511359
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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 RCV001045691 SCV001209560 benign Tuberous sclerosis 1 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416367 SCV002728237 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-15 criteria provided, single submitter clinical testing The p.P684R variant (also known as c.2051C>G), located in coding exon 15 of the TSC1 gene, results from a C to G substitution at nucleotide position 2051. The proline at codon 684 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003462533 SCV004204510 uncertain significance Isolated focal cortical dysplasia type II 2021-09-20 criteria provided, single submitter clinical testing

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