ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465091 SCV002759487 uncertain significance Spinocerebellar ataxia type 29 2022-11-29 criteria provided, single submitter clinical testing The c.1813C>G variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. The variant was neither published nor reported to clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen2, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies.
Illumina Laboratory Services, Illumina RCV002466761 SCV002762701 uncertain significance ITPR1-related syndromic and non-syndromic hereditary ataxias 2022-04-13 criteria provided, single submitter clinical testing The ITPR1 c.1768C>G (p.Leu590Val) missense variant results in the substitution of leucine at amino acid position 590 with valine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The c.1768C>G variant lies within the IP3-binding domain, which is reported to function in protein binding (Barresi et al. 2016; McEntagart et al. 2016). Another variant at the same position (p.Leu590LPhe) is reported as likely pathogenic in ClinVar. Missense variants are a common mechanism of ITPR1-related syndromic and non-syndromic hereditary ataxias (Barresi et al. 2016). Based on the available evidence, the c.1768C>G (p.Leu590Val) variant is classified as a variant of uncertain significance for ITPR1-related syndromic and non-syndromic hereditary ataxias.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002465091 SCV005094589 likely pathogenic Spinocerebellar ataxia type 29 2024-05-23 criteria provided, single submitter clinical testing

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