ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1293G>A (p.Ala431=)

gnomAD frequency: 0.00005  dbSNP: rs45517162
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163730 SCV000214305 likely benign Hereditary cancer-predisposing syndrome 2014-10-21 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.
Invitae RCV000476624 SCV000556602 benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001707517 SCV000721023 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12015165)
Illumina Laboratory Services, Illumina RCV000043449 SCV001279444 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.
Genome-Nilou Lab RCV000476624 SCV002041146 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163730 SCV002532765 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000043449 SCV004819247 likely benign Tuberous sclerosis syndrome 2023-11-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043449 SCV000067256 not provided Tuberous sclerosis syndrome no assertion provided curation

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