Submissions for variant NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) (rs201973949)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000559299	SCV000656169	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2019-09-09	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with tryptophan at codon 1804 of the COL12A1 protein (p.Arg1804Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs201973949, ExAC 0.01%) but has not been reported in the literature in individuals with a COL12A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics	RCV000559299	SCV000895791	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2018-10-31	criteria provided, single submitter	clinical testing

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