ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) (rs370767331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000534080 SCV000897310 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000534080 SCV000656167 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1798 of the COL12A1 protein (p.Thr1798Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs370767331, ExAC 0.06%). This variant has not been reported in the literature in individuals with COL12A1-related disease. ClinVar contains an entry for this variant (Variation ID: 475874). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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