ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)

gnomAD frequency: 0.00001  dbSNP: rs751362258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467686 SCV000552296 benign Tuberous sclerosis 1 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016721 SCV001177709 likely benign Hereditary cancer-predisposing syndrome 2023-03-24 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 RCV000467686 SCV002040034 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001896 SCV004830327 uncertain significance Tuberous sclerosis syndrome 2024-05-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000467686 SCV005406121 likely benign Tuberous sclerosis 1 2024-08-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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