ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.299C>T (p.Ala100Val) (rs375824753)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086235 SCV000644397 benign Tuberous sclerosis 2 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575476 SCV000675461 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-07 criteria provided, single submitter clinical testing The p.A100V variant (also known as c.299C>T), located in coding exon 3 of the TSC2 gene, results from a C to T substitution at nucleotide position 299. The alanine at codon 100 is replaced by valine, 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594514 SCV000709473 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761927 SCV000892153 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000761927 SCV000968819 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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