ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)

gnomAD frequency: 0.00004  dbSNP: rs201893545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053107 SCV001217351 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 124 of the IMPG2 protein (p.Phe124Leu). This variant is present in population databases (rs201893545, gnomAD 0.01%). This missense change has been observed in individual(s) with rod-cone dystrophy or autosomal recessive maculopathy (PMID: 20673862; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3550). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003728 SCV000023891 pathogenic Vitelliform macular dystrophy 5 2014-12-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003057 SCV001161114 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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