Submissions for variant NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) (rs755969956)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000631220	SCV000752234	uncertain significance	Cowden syndrome	2017-11-03	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 146 of the PIK3CA protein (p.Val146Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs755969956, ExAC 0.03%). This variant has not been reported in the literature in individuals with PIK3CA-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.
Fulgent Genetics,Fulgent Genetics	RCV000764478	SCV000895549	uncertain significance	Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung cancer; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma	2018-10-31	criteria provided, single submitter	clinical testing

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