ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) (rs1225241777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785896 SCV000924472 uncertain significance Joubert syndrome 13 2018-06-15 criteria provided, single submitter research The heterozygous p.Leu230Pro variant was identified by our study in the compound heterozygous state, with another VUS, in one individual with Joubert syndrome. This variant has been identified in <0.01% (1/111676) of European (Non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org;). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. The Leucine (Leu) at position 230 is not highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.

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