ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447874 SCV004175794 likely pathogenic Congenital myasthenic syndrome 19 2023-02-14 criteria provided, single submitter clinical testing The stop gained variant c.457G>T (p.Glu153Ter) in the COL13A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing (Dusl et al., 2019). For these reasons, this variant has been classified as Likely Pathogenic. In the absence of 2nd heterozygous variant, the molecular diagnosis is not confirmed.

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