ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3396G>T (p.Ser1132=)

dbSNP: rs373004429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221717 SCV000277015 likely benign Hereditary cancer-predisposing syndrome 2015-07-01 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.
Invitae RCV000644132 SCV000765822 uncertain significance Tuberous sclerosis 2 2017-09-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 232786). This variant is present in population databases (rs373004429, ExAC 0.004%). This sequence change affects codon 1132 of the TSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC2 protein.
Genome-Nilou Lab RCV000644132 SCV002039747 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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