ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.4125del (p.Tyr1376fs) (rs1064793506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479436 SCV000566283 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing The c.4125delG deletion in the USH2A gene causes a frameshift starting withcodon Tyrosine 1376, changes this amino acid to a Threonine residue and creates a premature Stop codonat position 56 of the new reading frame, denoted p.Tyr4125ThrfsX56. This variant is predicted to causeloss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Thec.4125delG deletion was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variantin these populations. Therefore, we interpret c.4125delG as a pathogenic variant.

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