ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.787G>A (p.Glu263Lys)

dbSNP: rs1556974682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523172 SCV000616829 pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing Identified in a patient with right microphthalmia, bilateral colobomas, and a repaired cleft lip (Slavotinek, 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542, 30374660)
Labcorp Genetics (formerly Invitae), Labcorp RCV000523172 SCV003444654 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 449084). This missense change has been observed in individual(s) with clinical features of focal dermal hypoplasia (PMID: 26633542). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 263 of the PORCN protein (p.Glu263Lys).

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