ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.5C>T (p.Ala2Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017241 SCV005649669 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733771 SCV005345828 uncertain significance MKS1-related disorder 2024-04-11 no assertion criteria provided clinical testing The MKS1 c.5C>T variant is predicted to result in the amino acid substitution p.Ala2Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. 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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