ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)

dbSNP: rs727504867
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005016474 SCV005645687 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453191 SCV004200756 pathogenic Retinitis pigmentosa 39 2023-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453191 SCV004183087 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515013 SCV003524041 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4750*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 179439). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 27460420, 30073356).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156228 SCV000205944 pathogenic Rare genetic deafness 2013-12-12 criteria provided, single submitter clinical testing The Gln4750X variant in USH2A has not been previously reported in individuals wi th hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 4750, which is predicted to lead to a t runcated or absent protein. In summary, this variant meets our criteria to be cl assified as pathogenic (http://pcpgm.partners.org/LMM).
Natera, Inc. RCV001826849 SCV002088233 pathogenic Usher syndrome type 2A 2020-09-01 no assertion criteria provided clinical testing

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