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

gnomAD frequency: 0.00001  dbSNP: rs187433682

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UW Hindbrain Malformation Research Program, University of Washington	RCV000201680	SCV000256473	pathogenic	Familial aplasia of the vermis	2015-02-23	criteria provided, single submitter	research
Illumina Laboratory Services, 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 Laboratory Services, 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.