ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.397G>A (p.Val133Ile)

gnomAD frequency: 0.00001  dbSNP: rs118203381
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456358 SCV000552363 likely benign Tuberous sclerosis 1 2023-10-04 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000782214 SCV000920700 benign not provided 2018-09-16 criteria provided, single submitter research
GeneDx RCV000782214 SCV001772985 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21520333, 22161988, 21811971)
Genome-Nilou Lab RCV000456358 SCV002040167 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371892 SCV002624589 likely benign Hereditary cancer-predisposing syndrome 2022-11-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Tuberous sclerosis database (TSC1) RCV000054879 SCV000083094 not provided Tuberous sclerosis syndrome no assertion provided curation

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