ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310316 SCV002602300 likely pathogenic Usher syndrome type 2A 2021-12-29 criteria provided, single submitter clinical testing NM_206933.2(USH2A):c.2269A>T(K757*) is expected to be pathogenic in the context of USH2A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in USH2A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV003464447 SCV004206314 likely pathogenic Retinitis pigmentosa 39 2023-02-25 criteria provided, single submitter clinical testing

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