ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.301_305del (p.Val101fs)

dbSNP: rs397517932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 3 2014-12-02 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV002513586 SCV003525371 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val101Serfs*27) in the CLRN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLRN1 are known to be pathogenic (PMID: 11524702, 24498627). This variant is present in population databases (rs397517932, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21675857). ClinVar contains an entry for this variant (Variation ID: 48145). For these reasons, this variant has been classified as Pathogenic.
Faculty of Health Sciences, Beirut Arab University RCV002273943 SCV002097251 pathogenic Usher syndrome 2022-02-12 no assertion criteria provided research

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