ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1738C>T (p.Arg580Cys)

gnomAD frequency: 0.00018  dbSNP: rs142123216
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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 RCV001346102 SCV001540275 uncertain significance not provided 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 580 of the IMPG1 protein (p.Arg580Cys). This variant is present in population databases (rs142123216, gnomAD 0.04%). This missense change has been observed in individual(s) with IMPG1-related conditions (PMID: 30215852; internal data). ClinVar contains an entry for this variant (Variation ID: 1042191). 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 disruptive. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815422 SCV005072426 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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