ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs)

dbSNP: rs1689010156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074185 SCV001239755 likely pathogenic Retinal dystrophy 2019-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660839 SCV004383141 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.Lys189Serfs*5. This sequence change creates a premature translational stop signal (p.Lys189Serfs*6) in the CERKL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CERKL are known to be pathogenic (PMID: 14681825, 23591405, 24043777). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 33322828).
Fulgent Genetics, Fulgent Genetics RCV005029678 SCV005655337 pathogenic Retinitis pigmentosa 26 2024-06-13 criteria provided, single submitter clinical testing

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