ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr)

dbSNP: rs1782008139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328855 SCV001520078 uncertain significance Vitelliform macular dystrophy 4 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001863193 SCV002114839 uncertain significance not provided 2021-03-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IMPG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 584 of the IMPG1 protein (p.Met584Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.
GenomeConnect - Invitae Patient Insights Network RCV003483817 SCV004228880 not provided Vitelliform macular dystrophy 1; Vitelliform macular dystrophy 4 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-11-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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