ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1656A>G (p.Ala552=)

gnomAD frequency: 0.00007  dbSNP: rs373515515
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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 RCV000989419 SCV000262216 benign Tuberous sclerosis 2 2025-01-14 criteria provided, single submitter clinical testing
Mendelics RCV000989419 SCV001139742 likely benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012581 SCV001173050 likely benign Hereditary cancer-predisposing syndrome 2015-11-05 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 RCV000055049 SCV001275642 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.
Genome-Nilou Lab RCV000989419 SCV002039565 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012581 SCV002530981 likely benign Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000055049 SCV000083267 not provided Tuberous sclerosis syndrome no assertion provided curation

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