ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly)

gnomAD frequency: 0.00004  dbSNP: rs139919040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553299 SCV000644352 likely benign Tuberous sclerosis 2 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431634 SCV002742511 likely benign Hereditary cancer-predisposing syndrome 2020-06-12 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.
PreventionGenetics, part of Exact Sciences RCV003419960 SCV004107195 uncertain significance TSC2-related condition 2023-02-27 criteria provided, single submitter clinical testing The TSC2 c.2510C>G variant is predicted to result in the amino acid substitution p.Ala837Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2124355-C-G) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/467948/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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