Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797587 | SCV002041636 | uncertain significance | not specified | 2021-11-18 | criteria provided, single submitter | clinical testing | Variant summary: GDI1 c.275T>C (p.Leu92Pro) results in a non-conservative amino acid change located in the FAD/NAD(P) binding domain (Guevara-Coto_2014) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183339 control chromosomes (gnomAD and publication data). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.275T>C has been reported in the literature in one individual affected with non-specific mental retardation (DAdamo_1998). The report does not provide unequivocal conclusions about association of the variant with X-Linked Mental Retardation 41. At least one functional study reports experimental evidence evaluating an impact on protein function and this variant results in reduced binding and recycling of RAB3A (DAdamo_1998). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| OMIM | RCV000012392 | SCV000032626 | pathogenic | Intellectual disability, X-linked 41 | 1996-07-12 | no assertion criteria provided | literature only |