ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003234966 SCV003934907 pathogenic Ullrich congenital muscular dystrophy 2 2023-06-15 criteria provided, single submitter research
3billion RCV003234966 SCV004013855 pathogenic Ullrich congenital muscular dystrophy 2 criteria provided, single submitter clinical testing The homozygous variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). This stop-gained (nonsense) variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae RCV003779864 SCV004570461 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2021*) in the COL12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2506379). For these reasons, this variant has been classified as Pathogenic.

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