ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1A>G (p.Met1Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468883 SCV002765095 likely pathogenic Joubert syndrome 18 2022-12-02 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP; Identified as compund heterozygous with NM_015631.6:c.566A>G
Labcorp Genetics (formerly Invitae), Labcorp RCV002571430 SCV003023844 pathogenic Orofacial-digital syndrome IV; Joubert syndrome 18 2023-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1804145). Disruption of the initiator codon has been observed in individual(s) with Joubert syndrome (PMID: 26092869; Invitae). 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 affects the initiator methionine of the TCTN3 mRNA. The next in-frame methionine is located at codon 152.

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