ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3812-3_3837dup

dbSNP: rs780071028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486932 SCV000569362 likely pathogenic not provided 2024-09-11 criteria provided, single submitter clinical testing RNA studies demonstrate a damaging effect whereby a majority of the transcript shows in-frame skipping of all of exon 18 with or without a part of exon 19 (PMID: 39120292); This variant is associated with the following publications: (PMID: 39120292, 38844983, 37322672, 33322828)
Labcorp Genetics (formerly Invitae), Labcorp RCV000486932 SCV001593461 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307515 SCV002600424 uncertain significance not specified 2022-10-10 criteria provided, single submitter clinical testing Variant summary: USH2A c.3812-3_3837dup29 is located in a canonical splice-site. Depending on the usage of the splicing sites, this variant is predicted to affect mRNA splicing or maintain the normal mRNA splicing. To our knowledge, no experimental study on the splicing effect of this variant has been reported. The variant allele was found at a frequency of 0.00014 in 250290 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in USH2A causing Usher Syndrome (0.00014 vs 0.011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3812-3_3837dup29 in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic, one laboratory classified the variant as likely benign, and a third laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001271230 SCV001452238 likely pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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