ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)

gnomAD frequency: 0.00003  dbSNP: rs587778729
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951521 SCV001097926 benign Tuberous sclerosis 2 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012373 SCV001172812 likely benign Hereditary cancer-predisposing syndrome 2022-07-27 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.
Illumina Laboratory Services, Illumina RCV001117452 SCV001275641 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237731 SCV002011352 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000951521 SCV002039560 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001117452 SCV004819285 likely benign Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing
ITMI RCV000122207 SCV000086428 not provided not specified 2013-09-19 no assertion provided reference population

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