ClinVar Miner

Submissions for variant NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) (rs766572502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000625743 SCV000746266 likely pathogenic JOUBERT SYNDROME 30 2017-01-01 criteria provided, single submitter research
Invitae RCV001234516 SCV001407167 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing This sequence change affects codon 293 of the ARMC9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ARMC9 protein. This variant also falls at the last nucleotide of exon 8 of the ARMC9 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs766572502, ExAC 0.002%). This variant has been observed to segregate with clinical features of Joubert syndrome in a family (PMID: 29159890). ClinVar contains an entry for this variant (Variation ID: 522606). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29159890). For these reasons, this variant has been classified as Pathogenic.

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