ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) (rs151023718)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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,Eurofins Clinical 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,Illumina 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,Illumina 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, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000514949 SCV000926866 likely pathogenic not provided 2018-04-01 no assertion criteria provided research

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