ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)

dbSNP: rs1562989913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757408 SCV000885616 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The IMPDH1 c.967A>G; p.Lys323Glu variant, also known as Lys238Glu, is reported in the medical literature in a small family with autosomal dominant RP (Wada 2005a). Additionally, another variant in the same codon, p.Lys323Arg, is reported in at least two individuals with autosomal dominant RP (Pradan 2009, Vincent 2017, Wada 2005b). The p.Lys323Glu variant is not reported in the ClinVar database, and is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at this position is conserved across species but computational algorithms predict this variant is tolerated (AlignGVGD, SIFT). Considering available information, the clinical significance of this variant cannot be determined with certainty. Pathogenic variants in IMPDH1 are associated with autosomal dominant retinitis pigmentosa (RP, MIM: 180105). References: Pradhan M et al. An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention. Clin Exp Ophthalmol. 2009 Sep;37(7):703-11. Vincent AL et al. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Maori and Polynesian reveals novel changes and a common founder mutation. Clin Exp Ophthalmol. 2017 Dec;45(9):901-910. Wada Y et al a. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41. Wada Y et al b. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. Am J Ophthalmol. 2005 Jul;140(1):163-5.
Blueprint Genetics RCV001074587 SCV001240178 likely pathogenic Retinal dystrophy 2019-01-08 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001074587 SCV004704784 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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