ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)

dbSNP: rs397517988
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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 RCV000041749 SCV000065445 pathogenic Rare genetic deafness 2012-11-05 criteria provided, single submitter clinical testing The Ala4678fs variant in USH2A has not reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 4678 and lead to a prematur e termination codon 5 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our cri teria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV001380769 SCV001578927 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala4678Serfs*5) 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: 25211151). This variant is also known as c.14031_14032insA. ClinVar contains an entry for this variant (Variation ID: 48426). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496661 SCV002810451 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450781 SCV004183106 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450780 SCV004183107 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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