ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310507 SCV002603227 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2022-01-02 criteria provided, single submitter clinical testing NM_017777.3(MKS1):c.1383T>A(Y461*) is expected to be pathogenic in the context of MKS1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MKS1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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