Submissions for variant NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) (rs191233787)

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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	RCV000536812	SCV000895789	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000536812	SCV000656173	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2018-09-24	criteria provided, single submitter	clinical testing	This sequence change replaces proline with threonine at codon 1947 of the COL12A1 protein (p.Pro1947Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs191233787, ExAC 0.03%). This variant has not been reported in the literature in individuals with COL12A1-related disease. ClinVar contains an entry for this variant (Variation ID: 475878). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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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