ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) (rs368049814)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191142 SCV000245551 uncertain significance Retinitis pigmentosa 39 2013-04-10 criteria provided, single submitter clinical testing This variant was found once in our laboratory with a pathogenic variant [E767fs] and another missense variant [G2224C; phase undetermined] in a 32-year-old female with retinitis pigmentosa. Variant possibly pathogenic in recessive state; heterozygotes would be carriers.
Counsyl RCV000675180 SCV000800809 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000484923 SCV000339979 likely pathogenic not provided 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000484923 SCV000565649 likely pathogenic not provided 2014-11-06 criteria provided, single submitter clinical testing The E3448K variant in the USH2A gene has been reported previously in a patient with Usher syndrome type II and classified as likely benign" based on in silico algorithms; however, other variants listed as "likely benign" based on in silico analysis only had been reported previously as pathogenic variants (McGee et al., 2010). This variant is a non-conservative amino acid substitution of a negatively charged Glutamic aicd with a positively charged Lysine at a residue that is conserved across mammalian species. The E3448K variant was not observed at any significant frequency in approximately 6,000 individuals of European and African American ancestry by an external variant database. The E3448K variant is a good candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded."
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504830 SCV000598761 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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