ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) (rs745693690)

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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 RCV001171541 SCV001334326 uncertain significance Usher syndrome 2020-05-20 reviewed by expert panel curation The c.13217T>C (p.Leu4406Pro) variant in USH2A is present in 5/24954 (0.00078% CI 95%) of African alleles in gnomAD v2.1.1, which is a low enough frequency to award PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive Usher syndrome (PM2). This variant has been detected in one patient with Usher syndrome, however, they also carried a benign variant in trans (PM3_Supporting not met; ClinVar ID: 48488; PMID: 24944099). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2.
Counsyl RCV000672328 SCV000797425 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-24 criteria provided, single submitter clinical testing
Mendelics RCV000986516 SCV001135531 likely pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074933 SCV001240540 uncertain significance Retinal dystrophy 2017-05-31 criteria provided, single submitter clinical testing

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