ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1554+3C>T

gnomAD frequency: 0.00004  dbSNP: rs781141738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992187 SCV001144257 benign not provided 2019-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992187 SCV003277506 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change falls in intron 15 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 (rs781141738, gnomAD 0.01%). 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: 804930). 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 is not likely to affect RNA splicing. 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.

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