ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2784C>T (p.Pro928=) (rs45517267)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125666 SCV000169128 benign not specified 2012-03-08 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125666 SCV000269919 benign not specified 2015-09-30 criteria provided, single submitter clinical testing p.Pro928Pro in exon 25 of TSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.36% (37/10338) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs45517267).
Invitae RCV000228595 SCV000285311 benign Tuberous sclerosis 2 2020-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000125666 SCV000344261 likely benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000125666 SCV000615896 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569439 SCV000664721 likely benign Hereditary cancer-predisposing syndrome 2015-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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