ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) (rs371093730)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470038 SCV000552339 benign Tuberous sclerosis 1 2020-11-06 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761012 SCV000890927 uncertain significance Craniopharyngioma 2016-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011148 SCV001171437 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing The p.G452A variant (also known as c.1355G>C), located in coding exon 12 of the TSC1 gene, results from a G to C substitution at nucleotide position 1355. The glycine at codon 452 is replaced by alanine, an amino acid with similar properties. This amino acid position is 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 RCV001591099 SCV001825884 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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