ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)

dbSNP: rs778147657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465567 SCV000544493 benign Tuberous sclerosis 2 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329033 SCV002631517 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-30 criteria provided, single submitter clinical testing The p.P1401A variant (also known as c.4201C>G), located in coding exon 33 of the TSC2 gene, results from a C to G substitution at nucleotide position 4201. The proline at codon 1401 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other 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.
GeneDx RCV003128805 SCV003805455 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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