ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468486 SCV004214424 likely pathogenic Retinitis pigmentosa 61 2023-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003689104 SCV004425172 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CLRN1 protein in which other variant(s) (p.Asn202Lys) have been determined to be pathogenic (PMID: 25743179). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CLRN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr185*) in the CLRN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the CLRN1 protein.

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