ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1413-1G>C (rs386834185)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694518 SCV000822968 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2017-09-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the TMEM67 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in a fetus affected with Meckel syndrome (PMID: 20232449). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 56767). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050180 SCV000082590 probable-pathogenic Meckel syndrome type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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