ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.810C>T (p.Asp270=)

gnomAD frequency: 0.00376  dbSNP: rs144567556
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179977 SCV000232307 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000179977 SCV000314463 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275193 SCV000376859 likely benign Joubert syndrome 24 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000327984 SCV000376860 uncertain significance Meckel syndrome, type 8 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001721126 SCV000516447 benign not provided 2020-11-08 criteria provided, single submitter clinical testing
Invitae RCV000465788 SCV000559042 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179977 SCV000597431 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721126 SCV004136545 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TCTN2: BP4, BP7, BS2

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