Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209091 | SCV001380512 | pathogenic | Bardet-Biedl syndrome; McKusick-Kaufman syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys127Serfs*32) in the MKKS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKKS are known to be pathogenic (PMID: 11179009, 28761321, 30614526). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035). ClinVar contains an entry for this variant (Variation ID: 939663). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002484130 | SCV002780191 | likely pathogenic | McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 | 2021-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003473754 | SCV004194906 | pathogenic | Bardet-Biedl syndrome 6 | 2022-09-10 | criteria provided, single submitter | clinical testing |