ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs)

gnomAD frequency: 0.00001  dbSNP: rs773497189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003117434 SCV003786144 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile545Aspfs*13) in the CERKL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the CERKL protein. This variant is present in population databases (rs773497189, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. ClinVar contains an entry for this variant (Variation ID: 522513). This variant disrupts a region of the CERKL protein in which other variant(s) (p.Ser551Cys) have been observed in individuals with CERKL-related conditions (PMID: 29555955). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000625656 SCV005057406 pathogenic Retinitis pigmentosa 26 2023-11-29 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625656 SCV000746159 pathogenic Retinitis pigmentosa 26 2017-10-11 no assertion criteria provided clinical testing

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