ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)

gnomAD frequency: 0.00001  dbSNP: rs780057014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190007 SCV000243679 uncertain significance not provided 2021-09-08 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
Invitae RCV001086210 SCV000765776 likely benign Tuberous sclerosis 2 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016513 SCV001177474 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-24 criteria provided, single submitter clinical testing The p.N919S variant (also known as c.2756A>G), located in coding exon 24 of the TSC2 gene, results from an A to G substitution at nucleotide position 2756. The asparagine at codon 919 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV001086210 SCV002039685 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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