Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001732094 | SCV001983588 | uncertain significance | not specified | 2021-09-28 | criteria provided, single submitter | clinical testing | Variant summary: LRAT c.487C>T (p.His163Tyr) results in a conservative amino acid change located in the LRAT domain (IPR007053) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250156 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.487C>T in individuals affected with Leber Congenital Amaurosis and no experimental evidence demonstrating its impact on protein function have been reported. One laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 in a research mode without evidence for independent evaluation. This submitter classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Laboratory of Genetics in Ophthalmology, |
RCV001257117 | SCV001433639 | likely pathogenic | Leber congenital amaurosis 14 | no assertion criteria provided | research |