ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1816C>G (p.Pro606Ala)

gnomAD frequency: 0.00008  dbSNP: rs776011686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649306 SCV000771133 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 606 of the PIGN protein (p.Pro606Ala). This variant is present in population databases (rs776011686, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 539553). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIGN protein function. 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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