ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter)

dbSNP: rs745585873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962952 SCV002228209 pathogenic not provided 2022-04-10 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.Arg207*) have been determined to be pathogenic (PMID: 22952768, 23304067, 26338283). 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 present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Tyr171*) in the CLRN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the CLRN1 protein.
Baylor Genetics RCV003471164 SCV004214426 likely pathogenic Retinitis pigmentosa 61 2022-12-30 criteria provided, single submitter clinical testing

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