ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)

dbSNP: rs536593247
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411193 SCV000487419 likely pathogenic Usher syndrome type 2A 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000412623 SCV000490147 likely pathogenic Retinitis pigmentosa 39 2016-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820967 SCV000961706 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro3116Hisfs*13) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs536593247, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 371686). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074252 SCV001239825 pathogenic Retinal dystrophy 2019-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000820967 SCV001804285 pathogenic not provided 2023-03-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34948090, 24944099, 27460420)
Genome-Nilou Lab RCV000412623 SCV004182709 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000411193 SCV004182710 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000412623 SCV004207704 pathogenic Retinitis pigmentosa 39 2024-03-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000820967 SCV004238394 pathogenic not provided 2023-02-02 criteria provided, single submitter clinical testing
Laboratory of Human Genetics, Universidade de São Paulo RCV004699123 SCV005201040 pathogenic Usher syndrome 2024-05-01 criteria provided, single submitter research The USH2A:c.9345del is a null variant in a gene where loss of function is a known mechanism of disease (PVS1), Extremely low frequency in gnomAD population databases (PM2), For recessive disorders, detected in trans with a pathogenic variant, or in a homozygous or compound heterozygous state in affected cases (PM3), Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1) , reported in ClinVar in affected individuals (PP5); it was detected in homozygosis in two affected siblings with Usher syndrome born from consanguineous couple.
Fulgent Genetics, Fulgent Genetics RCV005018704 SCV005645070 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411193 SCV001457073 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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