Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001390312 | SCV001591996 | pathogenic | Bardet-Biedl syndrome | 2023-04-08 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4580). This premature translational stop signal has been observed in individual(s) with BBS2-related conditions (PMID: 11567139). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val158Leufs*43) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). |
Fulgent Genetics, |
RCV002504748 | SCV002811618 | likely pathogenic | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-11-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004842 | SCV000025018 | pathogenic | Bardet-biedl syndrome 1/2, digenic | 2001-09-21 | no assertion criteria provided | literature only |