ClinVar Miner

Submissions for variant NM_052995.2(CLRN1):c.73_77del (p.Val25fs) (rs397517932)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844625 SCV000065130 pathogenic Rare genetic deafness 2011-11-08 criteria provided, single submitter clinical testing The Val101fs variant in CLRN1 has been identified in the homozygous state in two Lebanese siblings with Usher syndrome (Akoury 2011). This variant results in a frameshift at position 101 leading to a premature stop 27 codons downstream, whi ch is predicted to lead to a truncated or absent protein. In summary, this varia nt meets our criteria to be classified as pathogenic.
Counsyl RCV000041435 SCV000220930 likely pathogenic Usher syndrome, type 3A 2014-12-02 criteria provided, single submitter literature only

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