ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)

gnomAD frequency: 0.00001  dbSNP: rs772233665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573969 SCV000675412 likely benign Hereditary cancer-predisposing syndrome 2024-06-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000698607 SCV000827280 benign Tuberous sclerosis 1 2024-04-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000698607 SCV002039995 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802243 SCV005426885 uncertain significance Tuberous sclerosis syndrome 2024-05-13 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1129 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 1/251392 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000325 SCV005624758 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing

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