ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del)

dbSNP: rs1554414710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584898 SCV000693252 likely pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing IMPDH1: PM1, PM2, PP1:Moderate, PS4:Moderate, PM4:Supporting
Institute of Human Genetics, University of Leipzig Medical Center RCV001841488 SCV002102444 uncertain significance Retinitis pigmentosa 10 2022-02-01 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS4_MOD, PM2_SUP, PM4_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV000584898 SCV003440112 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This variant, c.942_944del, results in the deletion of 1 amino acid(s) of the IMPDH1 protein (p.Lys314del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with retinitis pigmentosa (PMID: 23591405, 24791140, 32100970). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817783 SCV005071425 likely pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing

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