ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn)

gnomAD frequency: 0.00026  dbSNP: rs371186107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562283 SCV001785022 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001562283 SCV002227668 likely benign not provided 2024-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570735 SCV003730624 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing Unlikely to be causative of ITPR1-related spinocerebellar ataxia (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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