ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)

gnomAD frequency: 0.00001  dbSNP: rs1003579700
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730343 SCV000858072 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578758 SCV001806061 uncertain significance Bardet-Biedl syndrome 13 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578759 SCV001806062 uncertain significance Joubert syndrome 28 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578760 SCV001806063 uncertain significance Meckel syndrome, type 1 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000730343 SCV005192975 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004733030 SCV005365316 uncertain significance MKS1-related disorder 2024-04-30 no assertion criteria provided clinical testing The MKS1 c.1465C>T variant is predicted to result in the amino acid substitution p.Arg489Cys. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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