ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)

dbSNP: rs781407050
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550602 SCV000644615 benign Tuberous sclerosis 2 2024-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000604770 SCV000723225 likely benign not specified 2017-09-27 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.
Genome-Nilou Lab RCV000550602 SCV002039927 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341373 SCV002641983 likely benign Hereditary cancer-predisposing syndrome 2024-07-10 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.
PreventionGenetics, part of Exact Sciences RCV004538003 SCV004116952 uncertain significance TSC2-related disorder 2022-10-12 criteria provided, single submitter clinical testing The TSC2 c.5203A>G variant is predicted to result in the amino acid substitution p.Ile1735Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2138270-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
All of Us Research Program, National Institutes of Health RCV003999327 SCV004827298 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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