ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln)

gnomAD frequency: 0.00002  dbSNP: rs200194885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362754 SCV001558787 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IMPG1-related conditions. 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1054275). This variant is present in population databases (rs200194885, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 111 of the IMPG1 protein (p.Arg111Gln).
Ambry Genetics RCV004036847 SCV003735715 uncertain significance not specified 2022-04-25 criteria provided, single submitter clinical testing The c.332G>A (p.R111Q) alteration is located in exon 3 (coding exon 3) of the IMPG1 gene. This alteration results from a G to A substitution at nucleotide position 332, causing the arginine (R) at amino acid position 111 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001535679 SCV001749748 not provided Vitelliform macular dystrophy 4 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-06-2021 by 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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