ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala)

dbSNP: rs1272549405
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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 RCV001064687 SCV001229600 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 858742). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 233 of the IMPDH1 protein (p.Gly233Ala).
DBGen Ocular Genomics RCV003389484 SCV004101741 pathogenic Retinitis pigmentosa 10 2022-01-01 criteria provided, single submitter clinical testing Class 5 ACMG Guidelines, 2015

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