ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)

gnomAD frequency: 0.00002  dbSNP: rs199693016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707655 SCV000836760 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2834 of the COL12A1 protein (p.Pro2834Arg). This variant is present in population databases (rs199693016, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of COL12A1-related conditions (PMID: 35903967; Invitae). ClinVar contains an entry for this variant (Variation ID: 583345). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV000707655 SCV000895785 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing

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