Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000664653 | SCV000788653 | uncertain significance | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2017-08-18 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323665 | SCV004029859 | uncertain significance | not specified | 2023-07-25 | criteria provided, single submitter | clinical testing | Variant summary: LRPPRC c.2741C>A (p.Pro914Gln) 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 was absent in 251188 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2741C>A has been reported in the literature in an individual diagnosed with a lethal infantile mitochondrial disorder (LIMD) (Kohda_2016); however, this report does not provide unequivocal conclusions about association of the variant with Leigh Syndrome, French-Canadian Type. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26741492). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |