Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445482 | SCV000536952 | uncertain significance | Monogenic diabetes | 2017-10-13 | criteria provided, single submitter | research | ACMG criteria: PP3 (2 predictors), BP4 (9 predictors)=VUS |
Invitae | RCV000907752 | SCV001052477 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000907752 | SCV001819855 | likely benign | not provided | 2021-05-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114575 | SCV003800281 | uncertain significance | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 2022-03-01 | criteria provided, single submitter | clinical testing | The SLC19A2 c.824G>T; p.Arg275Leu variant (rs61734338), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 393365). This variant is found in the African/African-American population with an allele frequency of 0.34% (84/24956 alleles, including a single homozygote) in the Genome Aggregation Database. The arginine at codon 275 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.228). While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |