ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3564+5G>T

gnomAD frequency: 0.00004  dbSNP: rs371420259
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551511 SCV001772033 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Athena Diagnostics RCV001551511 SCV002770511 uncertain significance not provided 2022-01-17 criteria provided, single submitter clinical testing
Invitae RCV001551511 SCV003491417 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the ITPR1 gene. It does not directly change the encoded amino acid sequence of the ITPR1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs371420259, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1190697). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003161083 SCV003885212 uncertain significance Inborn genetic diseases 2023-03-03 criteria provided, single submitter clinical testing Unlikely to be causative of ITPR1-related congenital non-progressive spinocerebellar ataxia (AD), ITPR1-related spinocerebellar ataxia (AD), and Gillespie syndrome (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003966181 SCV004779325 likely benign ITPR1-related disorder 2024-02-26 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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