ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1031G>A (p.Arg344His)

gnomAD frequency: 0.00001  dbSNP: rs1238910577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943700 SCV002191695 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 344 of the IMPDH1 protein (p.Arg344His). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 18310263). This variant is also known as R308H. ClinVar contains an entry for this variant (Variation ID: 1421043). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dept Of Ophthalmology, Nagoya University RCV003888916 SCV004704782 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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