Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659856 | SCV000781735 | pathogenic | X-linked Opitz G/BBB syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323663 | SCV004028636 | uncertain significance | not specified | 2023-07-19 | criteria provided, single submitter | clinical testing | Variant summary: MID1 c.1663A>G (p.Ile555Val) results in a conservative amino acid change located in the SPRY domain (IPR001870) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.7e-05 in 111076 control chromosomes (i.e., 2 heterozygous females and 1 hemizygous male; gnomAD v3.1.2). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1663A>G has been reported in the literature in at least one hemizygote affected with Opitz G/BBB syndrome (e.g., Ferrentino_2007). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 17221865). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance. |