Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000012247 | SCV000193078 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000012247 | SCV002053793 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | criteria provided, single submitter | clinical testing | ||
3billion | RCV000012247 | SCV002521099 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000011492). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID:10942423, 12483303, 1355069, 24726177, 7677157). Different missense changes at the same codon (p.Arg147Cys, p.Arg147Gly) have been reported to be associated with EBP related disorder (ClinVar ID: VCV000265110 / PMID: 11493318, 26075358). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV003329229 | SCV004036915 | pathogenic | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing | Female patient witth this variant showed accumulation of 8(9)-cholesterol and 8-dehydrocholesterol by GC/MS, suggestive of a defect of sterol-delta8-isomerase, and subsequent functional studies showed that this variant partially impairs enzyme activity (Braverman et al., 1999); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11982764, 22121851, 10391219, 7677157, 1355069, 11493318, 25814754, 22229330, 12824059, 12509714, 27276700, 14632217, 12483303, 11038443, 17625999, 19416264, 31299979, 30608402, 10942423, 34450268, SunMA2023[Article]) |
OMIM | RCV000012247 | SCV000032481 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2003-01-01 | no assertion criteria provided | literature only |