ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)

gnomAD frequency: 0.00001  dbSNP: rs1262368552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014084 SCV001174751 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-23 criteria provided, single submitter clinical testing The p.P672S variant (also known as c.2014C>T), located in coding exon 18 of the TSC2 gene, results from a C to T substitution at nucleotide position 2014. The proline at codon 672 is replaced by serine, an amino acid with 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.
Invitae RCV001054876 SCV001219234 benign Tuberous sclerosis 2 2023-07-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001054876 SCV002040667 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003117691 SCV003798567 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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