ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1892-6_1892-5insG

dbSNP: rs752652515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701800 SCV000830619 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-25 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the COL12A1 gene. It does not directly change the encoded amino acid sequence of the COL12A1 protein. 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 variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 578704). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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