Submissions for variant NM_024753.5(TTC21B):c.1320del (p.Phe440fs)

dbSNP: rs775836730

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001074968	SCV001240575	likely pathogenic	Retinal dystrophy	2017-09-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001851419	SCV002234176	pathogenic	Jeune thoracic dystrophy; Nephronophthisis	2023-11-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe440Leufs*4) in the TTC21B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC21B are known to be pathogenic (PMID: 18327258, 21068128, 21258341, 23559409, 24876116, 25492405, 27491411, 29068549). This variant is present in population databases (rs775836730, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with short-rib polydactyly syndrome type IV (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446650). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002496988	SCV002806462	pathogenic	Asphyxiating thoracic dystrophy 4; Nephronophthisis 12	2022-01-18	criteria provided, single submitter	clinical testing
Dan Cohn Lab, University Of California Los Angeles	RCV000516032	SCV000612064	pathogenic	Type IV short rib polydactyly syndrome	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516032	SCV001480012	likely pathogenic	Type IV short rib polydactyly syndrome		no assertion criteria provided	research