Total submissions: 3
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 |