ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)

dbSNP: rs397518015
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041838 SCV000065534 pathogenic Rare genetic deafness 2011-09-17 criteria provided, single submitter clinical testing The Asn1379fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. The Asn1379fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1379 and leads to a premature stop codon 54 codons downstream. This alteration i s then predicted to lead to a truncated or absent protein. In summary, this vari ant meets our criteria to be classified as pathogenic.
Invitae RCV001387596 SCV001588265 pathogenic not provided 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1379Serfs*54) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 33089500). ClinVar contains an entry for this variant (Variation ID: 48512). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001199964 SCV004182270 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001199964 SCV001370761 pathogenic Usher syndrome type 2A 2019-12-10 no assertion criteria provided research
Natera, Inc. RCV001199964 SCV002093906 pathogenic Usher syndrome type 2A 2021-09-27 no assertion criteria provided clinical testing

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