Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003495110 | SCV004296412 | pathogenic | Desbuquois dysplasia 1 | 2023-06-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 127236). This premature translational stop signal has been observed in individual(s) with Desbuquois dysplasia type 2 (PMID: 24581741). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg147*) in the XYLT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XYLT1 are known to be pathogenic (PMID: 24581741, 26601923). |
OMIM | RCV000115035 | SCV000148944 | pathogenic | Desbuquois dysplasia 2 | 2014-03-06 | no assertion criteria provided | literature only |