ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1832C>A (p.Thr611Asn)

dbSNP: rs1553682680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519498 SCV000620244 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing The T596N variant in the ITPR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T596N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T596N as a variant of uncertain significance.

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