ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)

gnomAD frequency: 0.00003  dbSNP: rs140544652
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231351 SCV000284742 benign Tuberous sclerosis 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017933 SCV001179100 likely benign Hereditary cancer-predisposing syndrome 2021-09-02 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.
GeneDx RCV001575957 SCV001803052 likely benign not provided 2021-07-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000231351 SCV002040143 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001017933 SCV002531491 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003407768 SCV004109481 uncertain significance TSC1-related disorder 2023-03-10 criteria provided, single submitter clinical testing The TSC1 c.850C>T variant is predicted to result in the amino acid substitution p.Arg284Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135787732-G-A). This variant is listed with conflicting interpretations of uncertain, likely benign and benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/237729/). 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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