ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.432-1G>C (rs10897158)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114239 SCV000147796 benign not specified 2013-09-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114239 SCV000203634 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Invitae RCV000200066 SCV000252759 benign Joubert syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000114239 SCV000306948 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001093993 SCV000372642 benign Joubert syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000291379 SCV000372643 benign Meckel syndrome, type 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000590397 SCV000697778 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The variant of interest, c.432-1G>C, is located at a non-conserved intronic position in intron 4, at the extreme 3'-end of the TMEM216 gene. However, exon 5, the last exon, contains only 1 amino acid before the stop codon. Alamut predicts the loss of a splice sight by 4/5 in silico programs, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 95665/117336 (including 40102 homozygotes) indicating that the variant of interest is the major allele (most commonly observed in the general population). In addition, multiple reputable clinical laboratories/databases with a classification of "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Mendelics RCV000988565 SCV001138331 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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