ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)

gnomAD frequency: 0.00001  dbSNP: rs386834201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514271 SCV003440653 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-09 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of Meckel syndrome (PMID: 20232449). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56782). This variant is present in population databases (rs386834201, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys129*) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050195 SCV000082605 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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