ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)

dbSNP: rs869312685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235044 SCV000292354 likely pathogenic Spinocerebellar ataxia type 29 2015-08-18 criteria provided, single submitter research Likely pathogenic based on prediction scores (SIFT, MutationTaster). This de novo variant was identified in a patient with congenital ataxia who also had peripheral neuropathy.

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