ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)

gnomAD frequency: 0.00001  dbSNP: rs1304140510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001194634 SCV001364295 likely pathogenic Ullrich congenital muscular dystrophy 2 2020-04-02 criteria provided, single submitter research ACMG codes: PVS1, PM2
Invitae RCV002559231 SCV003229390 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 929448). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg1301*) 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).

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