ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)

dbSNP: rs762136714
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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 RCV001839184 SCV002099125 uncertain significance Spinocerebellar ataxia type 29 2021-04-09 criteria provided, single submitter clinical testing The inherited heterozygous c.4216A>T (p.Ile1406Phe) missense variant identified in the ITPR1 gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD database suggesting it is not a common benign variant in the populations represented in that database. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico tools. Based on the available evidence, the inherited heterozygous c.4216A>T (p.Ile1406Phe) missense variant identified in the ITPR1 gene is reported as a variant of uncertain significance.

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