ClinVar Miner

Submissions for variant NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)

gnomAD frequency: 0.00066  dbSNP: rs113981920
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000398041 SCV000195211 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725689 SCV000338641 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344531 SCV000440577 uncertain significance Pontoneocerebellar hypoplasia 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 RCV000725689 SCV000526854 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725689 SCV001057771 likely benign not provided 2024-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725689 SCV004146965 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSEN2: BP4, BP7

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