ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)

dbSNP: rs1724332515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047554 SCV001211519 uncertain significance Cowden syndrome 2019-01-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PIK3CA-related conditions. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIK3CA cause disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the PIK3CA mRNA. The next in-frame methionine is located at codon 16.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196519 SCV001367127 uncertain significance Epidermal nevus 2018-10-25 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS1.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262942 SCV001441000 uncertain significance Megalencephaly-capillary malformation-polymicrogyria syndrome 2023-10-09 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PS2_MOD,PM2_SUP
GeneDx RCV004590053 SCV005079538 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease, although there is a downstream methione (Met) at codon 16. In the absence of functional evidence, the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx/; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; This variant is associated with the following publications: (PMID: 35998261, 35982159)

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