ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1214del (p.Asn405fs) (rs750228923)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000169682 SCV000221220 pathogenic Usher syndrome, type 2A 2014-01-20 criteria provided, single submitter clinical testing The Asn405fs variant in USH2A has been reported in at least 5 individuals with Usher syndrome type II, including one homozygote and 3 compound heterozygotes (Bernal 2005; Schwartz 2005; Sandberg 2008, Garcia-Garcia 2011). This frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 405 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. This variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000664558 SCV000788542 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001039128 SCV001202640 pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn405Ilefs*3) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750228923, ExAC 0.002%). This variant has been observed in individual(s) with Usher syndrome (PMID: 15671307, 25404053). ClinVar contains an entry for this variant (Variation ID: 189250). 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 RCV001075757 SCV001241387 pathogenic Retinal dystrophy 2019-06-12 criteria provided, single submitter clinical testing

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