ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)

gnomAD frequency: 0.00002  dbSNP: rs764903148
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548577 SCV000644549 benign Tuberous sclerosis 2 2023-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571084 SCV000675694 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-09 criteria provided, single submitter clinical testing The p.I1518V variant (also known as c.4552A>G), located in coding exon 34 of the TSC2 gene, results from an A to G substitution at nucleotide position 4552. The isoleucine at codon 1518 is replaced by valine, an amino acid with highly 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.
GeneDx RCV001546708 SCV001766273 likely benign not provided 2020-12-30 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; Observed in 0.0016% (4/250406 alleles) in large population cohorts (Lek et al., 2016)
Genome-Nilou Lab RCV000548577 SCV002040205 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571084 SCV002533943 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter curation

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