ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2149A>C (p.Arg717=)

dbSNP: rs1057523194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443612 SCV000531027 likely benign not specified 2016-08-17 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.
Invitae RCV001394460 SCV001596145 likely benign Tuberous sclerosis 1 2023-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001394460 SCV002040396 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429424 SCV002730634 likely benign Hereditary cancer-predisposing syndrome 2020-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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