Submissions for variant NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)

gnomAD frequency: 0.00107  dbSNP: rs114725374

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000310489	SCV000417625	uncertain significance	Nephronophthisis 12	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000365262	SCV000417626	uncertain significance	Asphyxiating thoracic dystrophy 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000842292	SCV000984299	likely benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000842292	SCV001158214	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001477199	SCV001681428	likely benign	Jeune thoracic dystrophy; Nephronophthisis	2021-12-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001729542	SCV002067921	likely benign	not specified	2017-09-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278508	SCV002567135	uncertain significance	Connective tissue disorder	2022-03-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000842292	SCV004147154	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TTC21B: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729542	SCV001978099	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000842292	SCV001979991	likely benign	not provided		no assertion criteria provided	clinical testing