ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)

gnomAD frequency: 0.00001  dbSNP: rs386834051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672700 SCV000797834 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2018-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513702 SCV003442503 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56625). This variant is also known as 50insCCGGG, P17fsX163. This premature translational stop signal has been observed in individual(s) with Meckel syndrome (PMID: 16415886). This variant is present in population databases (rs386834051, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asp19Alafs*36) 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).
Baylor Genetics RCV003474637 SCV004194927 pathogenic Bardet-Biedl syndrome 13 2024-03-05 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050038 SCV000082447 probable-pathogenic Meckel syndrome, type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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