ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3009C>T (p.Leu1003=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002721527 SCV003004827 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. This variant is present in population databases (rs745742591, gnomAD 0.02%). This sequence change affects codon 979 of the ITPR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ITPR1 protein.

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