ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) (rs202112856)

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Total submissions: 7
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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 RCV000224664 SCV000281669 uncertain significance not provided 2016-01-06 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224664 SCV000340363 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000318559 SCV000595798 uncertain significance not specified 2016-06-13 criteria provided, single submitter clinical testing
Invitae RCV000695608 SCV000824119 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2018-02-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 123 of the MKS1 protein (p.Arg123Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs202112856, ExAC 0.05%). This variant has been reported as heterozygous in several individuals affected with Bardet-Biedl syndrome (BBS) (PMID: 18327255) and an individual affected with polycystic kidney disease and ventriculomegaly (PMID: 25966130).   In each of these individuals additional, potentially pathogenic, variants were reported in other disease-associated genes. ClinVar contains an entry for this variant (Variation ID: 235814). Experimental studies have shown that this missense change partially rescued the mutant phenotype in morpholino studies, however not to the level that wild-type mRNA did (PMID: 18327255). 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.
Fulgent Genetics,Fulgent Genetics RCV000765373 SCV000896639 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126448 SCV001285644 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). 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 RCV001126449 SCV001285645 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.

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