ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1542A>T (p.Gly514=) (rs1128396)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118652 SCV000303961 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395501 SCV000373318 benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587812 SCV000696663 benign not provided 2016-04-12 criteria provided, single submitter clinical testing Variant summary: The TPP1 c.1542A>T variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 3/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. However, these predictions are not confirmed by experimental studies. This variant was found in 23452/121346 control chromosomes from the large and broad populations of ExAC (including 2381 homozygotes) at a frequency of 0.1932655, which is about 65 times greater than the maximal expected frequency of a pathogenic Tpp1 allele (0.002958). Therefore, the variant is a common benign polymorphism. It has been classified as likely benign by one laboratory before the ExAC control database was commonly used. Taken together, this variant has been classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000601152 SCV000744906 benign Ceroid lipofuscinosis neuronal 2 2017-06-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000587812 SCV000844500 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715174 SCV000846002 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118652 SCV000153066 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601152 SCV000733088 benign Ceroid lipofuscinosis neuronal 2 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000587812 SCV000801135 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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