Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946293 | SCV001092414 | benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002242 | SCV001160118 | uncertain significance | not specified | 2018-12-18 | criteria provided, single submitter | clinical testing | The IMPDH1 c.1489C>T; p.Arg497Trp variant (rs72624967), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the African population with an allele frequency of 0.5% (121/24928 alleles, including 1 homozygote). The amino acid at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Although the increased allele frequency indicates the variant may not be clinically significant, there is insufficient evidence to classify the variant with certainty. |
Dept Of Ophthalmology, |
RCV003890101 | SCV004704768 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Prevention |
RCV003903160 | SCV004724833 | benign | IMPDH1-related condition | 2019-09-23 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |