Submissions for variant NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) (rs779791079)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000179599	SCV000231869	pathogenic	not provided	2014-10-08	criteria provided, single submitter	clinical testing
Counsyl	RCV000671027	SCV000795965	pathogenic	Usher syndrome, type 2A; Retinitis pigmentosa 39	2017-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000179599	SCV001168547	pathogenic	not provided	2018-08-30	criteria provided, single submitter	clinical testing	The c.11875_11876delCA variant in the USH2A gene has been reported previously in association with Usher syndrome (Dreyer et al., 2008). The c.11875_11876delCA variant causes a frameshift starting with codon Glutamine 3959, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Gln3959AsnfsX53. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.11875_11876delCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.11875_11876delCA as a pathogenic variant.
Blueprint Genetics	RCV001073824	SCV001239388	pathogenic	Retinal dystrophy	2018-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV000179599	SCV001418176	pathogenic	not provided	2019-11-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln3959Asnfs*53) in the USH2A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with clinical features of retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 198318). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505154	SCV000598771	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research

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