ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)

gnomAD frequency: 0.00001  dbSNP: rs786202178
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164873 SCV000215558 likely benign Hereditary cancer-predisposing syndrome 2014-11-03 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.
Illumina Laboratory Services, Illumina RCV000316816 SCV000395633 uncertain significance Tuberous sclerosis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001047638 SCV001211606 benign Tuberous sclerosis 2 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001668323 SCV001885645 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001047638 SCV002039782 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000316816 SCV004822203 likely benign Tuberous sclerosis syndrome 2023-10-06 criteria provided, single submitter clinical testing

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