ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)

gnomAD frequency: 0.00021  dbSNP: rs200487406
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275173 SCV000445041 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics RCV000517772 SCV000613806 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001552373 SCV001773048 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Invitae RCV001552373 SCV002405553 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001552373 SCV002821153 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ITPR1: BP4
PreventionGenetics, part of Exact Sciences RCV003972462 SCV004795112 likely benign ITPR1-related disorder 2019-03-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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