Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514949 | SCV000610371 | uncertain significance | not provided | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664898 | SCV000788928 | uncertain significance | Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000690393 | SCV000818077 | uncertain significance | Joubert syndrome; Meckel-Gruber syndrome | 2019-12-16 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 286 of the MKS1 protein (p.Asp286Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs151023718, ExAC 0.09%). This variant has been observed in several individuals affected with ciliopathies, however a second allele was not found and in at least one individual pathogenic variants were found in a different gene (PMID: 18327255, 28224992, 21068128, 21258341). ClinVar contains an entry for this variant (Variation ID: 445724). Experimental studies have shown that this missense change has a moderate disrupting effect on protein function (PMID: 18327255). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
EGL Genetic Diagnostics, |
RCV000514949 | SCV000854879 | uncertain significance | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989953 | SCV001140699 | uncertain significance | Bardet-Biedl syndrome 13 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001126360 | SCV001285541 | uncertain significance | Meckel syndrome type 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV000989953 | SCV001285542 | uncertain significance | Bardet-Biedl syndrome 13 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Medical Genetics Laboratory, |
RCV000514949 | SCV000926866 | likely pathogenic | not provided | 2018-04-01 | no assertion criteria provided | research | |
Natera, |
RCV001126360 | SCV001455376 | uncertain significance | Meckel syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |