ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) (rs745688122)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796275 SCV000935781 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2018-12-15 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TCTN3 mRNA. The next in-frame methionine is located at codon 152. This variant is not present in population databases (ExAC no frequency). This variant has been observed homozygous within a cohort of individuals with personal or family history of Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217703). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UW Hindbrain Malformation Research Program,University of Washington RCV000201547 SCV000256480 pathogenic Joubert syndrome 18 2015-02-23 criteria provided, single submitter research

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