ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) (rs772264564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175761 SCV000227302 pathogenic not provided 2014-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000175761 SCV000890302 pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing The Y155X nonsense variant has been reported previously as compound heterozygous with other pathogenic variants in patients with autosomal recessive nonsyndromic hearing loss (DFNB1) (Tekin et al., 2005; Hismi et al., 2006; Bonyadi et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Natera, Inc. RCV001276815 SCV001463364 pathogenic Deafness, autosomal recessive 1A 2020-09-16 no assertion criteria provided clinical testing

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