ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)

gnomAD frequency: 0.00001  dbSNP: rs751811370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229875 SCV001402335 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 128 of the COL12A1 protein (p.Thr128Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs751811370, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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