ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) (rs137853105)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626942 SCV000747645 pathogenic Polydactyly; Nystagmus; Muscular hypotonia 2017-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000665962 SCV000790181 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV001239533 SCV001412411 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 492 of the MKS1 protein (p.Cys492Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is present in population databases (rs137853105, ExAC 0.008%). This variant has been observed in combination with another MKS1 variant in individual(s) affected with Joubert syndrome or Bardet-Biedl syndrome (PMID: 28497568, 18327255). ClinVar contains an entry for this variant (Variation ID: 1393). This variant has been reported to affect MKS1 protein function (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.
OMIM RCV000001458 SCV000021613 pathogenic Bardet-Biedl syndrome 13 2008-04-01 no assertion criteria provided literature only

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