ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) (rs187433682)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201680 SCV000256473 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000778106 SCV000376873 uncertain significance Joubert syndrome 24 2017-04-27 criteria provided, single submitter clinical testing The TCTN2 c.1117G>A (p.Gly373Arg) missense variant has been reported in two studies in which it was found in one patient with Joubert syndrome in a compound heterozygous state with a frameshift variant on the second allele (Juric-Sekhar et al. 2012; Bachmann-Gagescu et al. 2015). The p.Gly373Arg variant was absent from 2,654 control chromosomes and is reported at a frequency of 0.00002 in the total population of the Exome Aggregation Consortium, though this is based on two alleles only. The evidence for this variant is limited. The p.Gly373Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for Joubert syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV000310999 SCV000376874 uncertain significance Meckel syndrome type 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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