ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)

gnomAD frequency: 0.00147  dbSNP: rs72624967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946293 SCV001092414 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002242 SCV001160118 uncertain significance not specified 2018-12-18 criteria provided, single submitter clinical testing The IMPDH1 c.1489C>T; p.Arg497Trp variant (rs72624967), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the African population with an allele frequency of 0.5% (121/24928 alleles, including 1 homozygote). The amino acid at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Although the increased allele frequency indicates the variant may not be clinically significant, there is insufficient evidence to classify the variant with certainty.
Dept Of Ophthalmology, Nagoya University RCV003890101 SCV004704768 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003903160 SCV004724833 benign IMPDH1-related condition 2019-09-23 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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