Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003234895 | SCV003933904 | likely pathogenic | Rhizomelic chondrodysplasia punctata | 2023-05-22 | criteria provided, single submitter | clinical testing | Variant summary: GNPAT c.631C>T (p.Arg211Cys) results in a non-conservative amino acid change located in the Phospholipid/glycerol acyltransferase (IPR002123) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251464 control chromosomes. c.631C>T has been reported in the literature in individuals affected with Rhizomelic Chondrodysplasia Punctata (Ofman_2001). At least one publication reports experimental evidence evaluating an impact on protein function indicating no GNPAT enzyme activity in a homozygous individual (Ofman_2001). Another variant affecting the same amino acid (p.Arg211His, pathogenic in ClinVar) has been observed in homozygous individuals with no GNPAT activity suggesting an important role of this variant in disease. The following publication have been ascertained in the context of this evaluation (PMID: 11237722).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 likely pathogenic. |
| Baylor Genetics | RCV000007244 | SCV004191674 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 2 | 2023-08-15 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000007244 | SCV000027440 | pathogenic | Rhizomelic chondrodysplasia punctata type 2 | 1998-05-01 | no assertion criteria provided | literature only |