ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308204 SCV002601898 likely pathogenic Usher syndrome type 2A 2022-03-09 criteria provided, single submitter clinical testing NM_206933.2(USH2A):c.3685_3686delTT(L1229Tfs*21) 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.

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