ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.251C>T (p.Ala84Val) (rs35660529)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189955 SCV000243624 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084150 SCV000285296 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575144 SCV000675481 likely benign Hereditary cancer-predisposing syndrome 2018-11-14 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000589638 SCV000697463 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.251C>T (p.Ala84Val) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 20/32398 control chromosomes, predominantly observed in the European (Non-Finnish) and South Asian subpopulations at a frequency of 0.0008709 (14/16076) and 0.000704 (6/8528), respectively. This frequencies is about 10-13 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), suggesting this is likely a benign polymorphism found primarily in these two subpopulations. Co-occurrence of the variant of interest and a potential pathogenic TSC1 variant (c.1112T>G/p.Tyr297X) has been reported in one TSC patient. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. Taken together, this variant is classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589638 SCV000892152 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042470 SCV001277180 uncertain significance Tuberous sclerosis syndrome 2018-07-10 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.
Tuberous sclerosis database (TSC2) RCV000042470 SCV000066261 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055051 SCV000083269 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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