Submissions for variant NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)

gnomAD frequency: 0.00006  dbSNP: rs752659088

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet	RCV000754953	SCV000788379	likely pathogenic	Jeune thoracic dystrophy	2018-05-01	criteria provided, single submitter	research
Rare Disease Group, Clinical Genetics, Karolinska Institutet	RCV000984620	SCV000924633	likely pathogenic	Jeune thoracic dystrophy; Familial aplasia of the vermis	2019-06-11	criteria provided, single submitter	clinical testing	This synonymous variant has been shown to affect splicing, leading to skipping of exon 4 in the KIAA0753 protein (shown by sequencing cDNA from homozygous individual). Four deceased patients (from two families) with SRTD and JBTS phenotype are homozygous for this variant. In summary, this seemingly synonymous variant affect splicing and should be considered as likely pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital	RCV001269992	SCV001450399	likely pathogenic	not provided	2018-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001269992	SCV001990247	uncertain significance	not provided	2019-09-09	criteria provided, single submitter	clinical testing	In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Nucleotide substitution is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001269992	SCV002431093	likely benign	not provided	2022-11-10	criteria provided, single submitter	clinical testing
OMIM	RCV001559339	SCV001781548	pathogenic	Short-rib thoracic dysplasia 21 without polydactyly	2021-10-07	no assertion criteria provided	literature only