ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)

gnomAD frequency: 0.00001  dbSNP: rs766665967
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644357 SCV000766050 benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022945 SCV001184745 likely benign Hereditary cancer-predisposing syndrome 2018-12-12 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.
GeneDx RCV001653965 SCV001866339 likely benign not provided 2021-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644357 SCV002039516 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022945 SCV002533971 benign Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter curation
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224362 SCV003920604 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-12-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.006% [1/15286]; https://gnomad.broadinstitute.org/variant/16-2086249-G-A?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID: 536068). Evolutionary conservation and computational prediction tools for this variant are limited or unavailable. Of note, this is a silent variant and does not change the amino acid, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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