ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.591del (p.Phe197fs)

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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 RCV002750125 SCV003013408 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe197Leufs*5) in the CLRN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the CLRN1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLRN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1971725). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465824 SCV004214416 pathogenic Retinitis pigmentosa 61 2023-05-31 criteria provided, single submitter clinical testing

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