Submissions for variant NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) (rs370544100)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652909	SCV000774781	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2019-09-24	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with asparagine at codon 595 of the COL12A1 protein (p.His595Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs370544100, ExAC 0.003%). This variant has not been reported in the literature in individuals with 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, 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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