ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro)

dbSNP: rs1260045423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837417 SCV002098013 uncertain significance Spinocerebellar ataxia type 29 2020-06-25 criteria provided, single submitter clinical testing The inherited heterozygous p.Arg376Pro missense variant identified in the ITPR1 gene has not been reported in affected individual in the literature. The variant is absent from the gnomAD database indicating it is an extremely rare allele in the general population. The affected Arg376 is highly conserved during evolution, is located within the IP3-binding domain [PMID: 28659154], and is predicted deleterious by multiple in silico tools. Functional studies have not been reported to evaluate the potential consequences of his variant. Based on the available evidence, the inherited p.Arg376Pro variant identified in the ITPR1 gene is assessed as a variant of uncertain significance.

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