ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) (rs200243588)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171526 SCV001334311 likely benign Usher syndrome 2020-05-26 reviewed by expert panel curation The filtering allele frequency (the lower threshold of the 95% CI of 57/19928 of the c.7167C>T (p.Ser2389=) variant in the USH2A gene is 0.22% for East Asian chromosomes by gnomAD v2.1.1, which is a higher frequency than would be expected for an autosomal recessive pathogenic variant based on the thresholds defined by the ClinGen Hearing Loss Expert Panel (BS1_Supporting). The silent c.7167C>T variant in USH2A is not predicted by the computational prediction analysis using MaxEntScan to impact splicing (BP4, BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BS1_P, BP4,BP7.
GeneDx RCV000841790 SCV000983774 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000841790 SCV001057709 benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271988 SCV001453616 uncertain significance Usher syndrome, type 2A 2019-11-07 no assertion criteria provided clinical testing

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