ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)

dbSNP: rs369553241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557731 SCV000644530 benign Tuberous sclerosis 2 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022338 SCV001184061 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-11 criteria provided, single submitter clinical testing The p.R1451S variant (also known as c.4351C>A), located in coding exon 33 of the TSC2 gene, results from a C to A substitution at nucleotide position 4351. The arginine at codon 1451 is replaced by serine, an amino acid with dissimilar 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.
Genome-Nilou Lab RCV000557731 SCV002039853 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409796 SCV004108859 uncertain significance TSC2-related condition 2023-07-11 criteria provided, single submitter clinical testing The TSC2 c.4351C>A variant is predicted to result in the amino acid substitution p.Arg1451Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2134574-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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