ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)

gnomAD frequency: 0.00009  dbSNP: rs137854152
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000043239 SCV000395662 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.
GeneDx RCV000431036 SCV000535093 likely benign not specified 2018-01-25 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.
Invitae RCV000464259 SCV000556506 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564650 SCV000675479 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 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.
Genome-Nilou Lab RCV000464259 SCV002040227 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564650 SCV002533984 likely benign Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004541228 SCV004778864 likely benign TSC2-related disorder 2023-08-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000043239 SCV004815987 likely benign Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043239 SCV000067040 not provided Tuberous sclerosis syndrome no assertion provided curation

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