ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)

gnomAD frequency: 0.00002  dbSNP: rs780457606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235261 SCV001407940 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-17 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2899 of the COL12A1 protein (p.Ala2899Thr). This variant is present in population databases (rs780457606, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of COL12A1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 961550). 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.

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