Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000724561 | SCV000229153 | pathogenic | not provided | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763444 | SCV000894215 | pathogenic | McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000824067 | SCV000964948 | pathogenic | Bardet-Biedl syndrome; McKusick-Kaufman syndrome | 2019-03-22 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 37 of the MKKS protein (p.Tyr37Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs74315396, ExAC 0.01%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with Bardet-Biedl syndrome (PMID: 10802661). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 5309). Experimental studies have shown that this missense change results in the formation of a unstable, rapidly degraded protein (PMID: 20498079, 18094050). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075509 | SCV001241133 | pathogenic | Retinal dystrophy | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001267323 | SCV001445504 | pathogenic | Inborn genetic diseases | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000724561 | SCV001446893 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005633 | SCV000025815 | pathogenic | McKusick-Kaufman syndrome | 2001-09-21 | no assertion criteria provided | literature only | |
OMIM | RCV000005634 | SCV000025816 | pathogenic | Bardet-Biedl syndrome 6 | 2001-09-21 | no assertion criteria provided | literature only | |
OMIM | RCV000144678 | SCV000190011 | pathogenic | Bardet-biedl syndrome 2/6, digenic | 2001-09-21 | no assertion criteria provided | literature only |