ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) (rs767767573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664922 SCV000788955 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2016-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000520104 SCV000620032 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The R864X variant in the USH1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R864X variant is observed in 3/16512 (0.018%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). We interpret R864X as a variant of uncertain significance.

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