Submissions for variant NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) (rs1206578296)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000634426	SCV000755731	uncertain significance	CHARGE association	2018-11-09	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with methionine at codon 1010 of the CHD7 protein (p.Ile1010Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHD7-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: "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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