ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) (rs773684291)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201754 SCV000256442 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
GeneDx RCV000479872 SCV000571461 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing The S403L variant in the MKS1 gene has been reported previously in one individual with Joubert syndrome who also harbored a second variant in MKS1 (Slaats et al., 2015). The S403L variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S403L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The S403L variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Counsyl RCV000984284 SCV001132434 uncertain significance Meckel syndrome type 1 2018-03-28 no assertion criteria provided clinical testing
Counsyl RCV000984285 SCV001132435 uncertain significance Bardet-Biedl syndrome 13 2018-03-28 no assertion criteria provided clinical testing
Counsyl RCV000984286 SCV001132436 uncertain significance Joubert syndrome 28 2018-03-28 no assertion criteria provided clinical testing

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