Submissions for variant NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)

gnomAD frequency: 0.00537  dbSNP: rs146496725

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176426	SCV000228081	benign	not specified	2015-01-12	criteria provided, single submitter	clinical testing
Invitae	RCV001085304	SCV000290900	benign	Jeune thoracic dystrophy; Nephronophthisis	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176426	SCV000314427	likely benign	not specified		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415806	SCV000493467	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TTC21B: BS2
GeneDx	RCV000415806	SCV000518554	benign	not provided	2020-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21258341, 26940125)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000176426	SCV000540612	uncertain significance	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Has been reported in 5 individuals with MKS, BBS, or NPHP (Davis 2011). All were heterozygotes only, except for one individual with BBS who also had a frameshift variant in this gene. Led to partial rescue of function in zebrafish knockdown studies and mislocalized protein in photoreceptors in retinal electroporation assays. Also identified in 1/356 control chromosomes. 0.9% freq in Eur chr in ExAC.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000415806	SCV000605474	likely benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000415806	SCV000611055	likely benign	not provided	2017-08-16	criteria provided, single submitter	clinical testing
Mendelics	RCV000986865	SCV001136010	benign	Joubert syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001135581	SCV001295370	likely benign	Asphyxiating thoracic dystrophy 4	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001135582	SCV001295371	likely benign	Nephronophthisis 12	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001171333	SCV001328280	likely benign	Chronic kidney disease	2020-05-28	criteria provided, single submitter	research	PP3, BP6, BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277374	SCV002567139	likely benign	Connective tissue disorder	2018-10-01	criteria provided, single submitter	clinical testing