ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro)

gnomAD frequency: 0.00001  dbSNP: rs713993047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075243 SCV001240857 likely pathogenic Retinal dystrophy 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV001213189 SCV001384807 uncertain significance not provided 2022-06-11 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 162136). This missense change has been observed in individual(s) with vitelliform macular dystrophy and/or retinitis pigmentosa (PMID: 23993198, 30688845; Invitae). This variant is present in population databases (rs713993047, gnomAD 0.008%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 154 of the IMPG1 protein (p.Leu154Pro).
OMIM RCV000149550 SCV000196507 pathogenic Vitelliform macular dystrophy 4 2013-09-05 no assertion criteria provided literature only

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