ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)

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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. RCV002310008 SCV002604258 likely pathogenic Usher syndrome type 2A 2022-02-25 criteria provided, single submitter clinical testing NM_206933.2(USH2A):c.3517_3518delTC(S1173Kfs*29) 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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