Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001336477 | SCV001529870 | uncertain significance | Intellectual disability, autosomal recessive 47 | 2018-12-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| New York Genome Center | RCV001336477 | SCV002025728 | uncertain significance | Intellectual disability, autosomal recessive 47 | 2020-04-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003490198 | SCV004242056 | uncertain significance | not specified | 2023-12-08 | criteria provided, single submitter | clinical testing | Variant summary: FMN2 c.575A>T (p.Gln192Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 249054 control chromosomes, predominantly at a frequency of 0.0018 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.575A>T in individuals affected with Autosomal Recessive Intellectual Disability and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Both submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |