ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)

dbSNP: rs45437797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707631 SCV000836733 likely benign Tuberous sclerosis 2 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013512 SCV001174106 likely benign Hereditary cancer-predisposing syndrome 2022-03-08 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.
Genome-Nilou Lab RCV000707631 SCV002039587 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003151740 SCV003840620 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing Published functional studies demonstrate decreased TSC2 and TSC1 signals and elevated S6K phosphorylation compared to wild type (Hoogeveen-Westerveld et al., 2011); Reported in one family with tuberous sclerosis in published literature (Au et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21520333, 17304050, 21309039, 32778766)
Tuberous sclerosis database (TSC2) RCV000042864 SCV000066660 not provided Tuberous sclerosis syndrome no assertion provided curation

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