ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) (rs1800746)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118654 SCV000153068 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000118654 SCV000169040 benign not specified 2013-06-24 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118654 SCV000230076 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000059627 SCV000281067 benign not provided 2015-09-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118654 SCV000303962 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118654 SCV000540575 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: High allele frequency and might be associated with childhood neuronal ceroid-lipofuscinosis. Not related to our patient's phenotype.
Invitae RCV000059627 SCV000559664 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716141 SCV000846977 benign Seizures 2016-06-16 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000988485 SCV001138227 benign Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104756 SCV001261642 likely benign Ceroid lipofuscinosis neuronal 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
UniProtKB/Swiss-Prot RCV000059627 SCV000091194 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000059627 SCV000801153 benign not provided 2017-11-03 no assertion criteria provided clinical testing

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