ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.579C>G (p.Asn193Lys)

dbSNP: rs1206983556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592910 SCV000708189 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279283 SCV001466366 uncertain significance Meckel syndrome, type 1 2020-08-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732962 SCV005367380 uncertain significance MKS1-related disorder 2024-04-03 no assertion criteria provided clinical testing The MKS1 c.579C>G variant is predicted to result in the amino acid substitution p.Asn193Lys. 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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