ClinVar Miner

Submissions for variant NC_000008.10:g.(?_94797471)_(94808642_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959093 SCV002238803 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TMEM67 protein in which other variant(s) (p.Arg440Gln) have been determined to be pathogenic (PMID: 17377820, 17397051; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. This variant results in the deletion of exons 13-18 and part of exon 12 (c.1156_1860+430del) of the TMEM67 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409).

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