ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)

gnomAD frequency: 0.00168  dbSNP: rs61751570
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269615 SCV000444952 benign Autosomal dominant cerebellar ataxia 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Schule lab, Hertie Institute for Clinical Brain Research RCV000677365 SCV000700187 likely benign Spinocerebellar ataxia type 29 2018-02-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000971867 SCV001119543 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000971867 SCV001785199 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29925855)
Fulgent Genetics, Fulgent Genetics RCV002488749 SCV002802698 likely benign Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 2021-08-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971867 SCV002821152 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ITPR1: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000971867 SCV001800508 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000971867 SCV001931252 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000971867 SCV001975770 likely benign not provided no assertion criteria provided clinical testing

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