ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1679del (p.Pro560fs) (rs773539640)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000414082 SCV000339397 pathogenic not provided 2016-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000414082 SCV000490869 pathogenic not provided 2015-04-23 criteria provided, single submitter clinical testing The c.1679delC variant in the USH2A gene has been reported in association with Usher syndrome type 2A (Weston et al., 2000). The deletion causes a frameshift starting with codon Proline 560, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Pro560LeufsX31. The c.1679delC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic.
Invitae RCV000414082 SCV001200990 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro560Leufs*31) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773539640, ExAC 0.01%). This variant has been observed in several individuals affected with Usher syndrome 2A (PMID: 10729113, 22135276, 25649381, 15671307, 15325563). ClinVar contains an entry for this variant (Variation ID: 286104). 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 RCV001073636 SCV001239187 pathogenic Retinal dystrophy 2019-07-26 criteria provided, single submitter clinical testing
Counsyl RCV000668895 SCV000793569 pathogenic Retinitis pigmentosa 39 2017-08-18 no assertion criteria provided clinical testing

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