Submissions for variant NM_206933.3(USH2A):c.5278del (p.Asp1760fs) (rs754374132)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000671172	SCV000796123	likely pathogenic	Usher syndrome, type 2A; Retinitis pigmentosa 39	2017-12-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000986535	SCV001135552	pathogenic	Usher syndrome, type 2A	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001060498	SCV001225191	pathogenic	not provided	2019-01-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asp1760Metfs*10) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754374132, ExAC 0.02%). This variant has been observed in individuals affected with USH2A-related conditions (PMID: 22004887, 25404053, 26969326). ClinVar contains an entry for this variant (Variation ID: 555362). 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.
Blueprint Genetics	RCV001073368	SCV001238909	pathogenic	Retinal dystrophy	2019-01-04	criteria provided, single submitter	clinical testing

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