ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)

gnomAD frequency: 0.00014  dbSNP: rs201804963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712031 SCV000842444 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150323 SCV001311383 likely benign Autosomal dominant cerebellar ataxia 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000712031 SCV002030941 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV000712031 SCV002465233 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing

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