ClinVar Miner

Submissions for variant NM_001843.4(CNTN1):c.2512G>T (p.Glu838Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005192003 SCV005829601 pathogenic Compton-North congenital myopathy 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu838*) in the CNTN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTN1 are known to be pathogenic (PMID: 19026398, 22242131). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CNTN1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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