ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.312+5G>A

gnomAD frequency: 0.00001  dbSNP: rs786200868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388801 SCV001589941 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 2 and introduces a premature termination codon (PMID: 27434533). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1380). This variant has been observed in individual(s) with Joubert syndrome (PMID: 19058225, 27434533). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the TMEM67 gene. It does not directly change the encoded amino acid sequence of the TMEM67 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002496229 SCV002808725 pathogenic COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-03-24 criteria provided, single submitter clinical testing
OMIM RCV000001448 SCV000021598 pathogenic COACH syndrome 1 2009-02-01 no assertion criteria provided literature only

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