ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.52del (p.Val18fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002834046 SCV003218191 pathogenic not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val18Phefs*19) in the IMPG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG1 are known to be pathogenic (PMID: 23993198). This variant is present in population databases (rs760632047, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IMPG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2010524). For these reasons, this variant has been classified as Pathogenic.

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