ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.792G>A (p.Leu264=)

dbSNP: rs1257538409
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642028 SCV000763681 likely benign Tuberous sclerosis 1 2024-11-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257897 SCV002531485 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter curation
Ambry Genetics RCV002257897 SCV002677360 likely benign Hereditary cancer-predisposing syndrome 2020-07-01 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692008 SCV005190547 uncertain significance not provided criteria provided, single submitter not provided
All of Us Research Program, National Institutes of Health RCV004802325 SCV005426983 likely benign Tuberous sclerosis syndrome 2024-04-16 criteria provided, single submitter clinical testing
GeneDx RCV004692008 SCV005437559 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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