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
Invitae RCV001045691 SCV001209560 uncertain significance Tuberous sclerosis 1 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 684 of the TSC1 protein (p.Pro684Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 28250423). ClinVar contains an entry for this variant (Variation ID: 843140). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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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