ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) (rs1566001519)

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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 RCV000785897 SCV000924473 uncertain significance Joubert syndrome 13 2018-06-15 criteria provided, single submitter research The heterozygous p.Gly391Arg variant was identified by our study in the compound heterozygous state, with another VUS, in one individual with Joubert syndrome. This variant was absent from large population studies. The Glycine (Gly) at position 391 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not 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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