ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala)

dbSNP: rs377661526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238623 SCV001411447 uncertain significance Majeed syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 481 of the LPIN2 protein (p.Gly481Ala). This variant is present in population databases (rs377661526, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 964406). 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 not expected to disrupt LPIN2 protein function with a negative predictive value of 80%. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264243 SCV002543531 uncertain significance Autoinflammatory syndrome 2018-05-01 criteria provided, single submitter clinical testing

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