ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=)

gnomAD frequency: 0.00004  dbSNP: rs751540913
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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 RCV001360227 SCV001556133 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-11 criteria provided, single submitter clinical testing This sequence change affects codon 2023 of the COL12A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL12A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs751540913, gnomAD 0.002%). 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: 1052104). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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