ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)

gnomAD frequency: 0.00003  dbSNP: rs397514984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544312 SCV000644337 benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571953 SCV000675532 benign Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV000544312 SCV002039642 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003225085 SCV003921384 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23514105)

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