ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004657205 SCV005153695 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The p.V105G variant (also known as c.314T>G), located in coding exon 1 of the PIK3CA gene, results from a T to G substitution at nucleotide position 314. The valine at codon 105 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023617 SCV005661898 uncertain significance Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 2024-05-02 criteria provided, single submitter clinical testing

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