Submissions for variant NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) (rs1331824961)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000634425	SCV000755730	uncertain significance	CHARGE association	2017-11-06	criteria provided, single submitter	clinical testing	This sequence change replaces serine with phenylalanine at codon 787 of the CHD7 protein (p.Ser787Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with isolated esophageal atresia (PMID: 24819706). 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: "Tolerated"; PolyPhen-2: "Possibly 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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