ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.135G>A (p.Leu45=) (rs149278759)

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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 RCV000570929 SCV000675406 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000642009 SCV000763662 uncertain significance Tuberous sclerosis 1 2017-10-05 criteria provided, single submitter clinical testing This sequence change affects codon 45 of the TSC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC1 protein. This variant is present in population databases (rs149278759, ExAC 0.003%). This variant has not been reported in the literature in individuals with TSC1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Athena Diagnostics Inc RCV000713904 SCV000844545 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing

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