ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)

dbSNP: rs2143800757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001883884 SCV002145784 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-12-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MKS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys220*) in the MKS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 19466712, 24886560, 26490104).
Myriad Genetics, Inc. RCV002307778 SCV002604004 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2021-12-08 criteria provided, single submitter clinical testing NM_017777.3(MKS1):c.658A>T(K220*) 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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