ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr)

gnomAD frequency: 0.00048  dbSNP: rs140609636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644770 SCV000766481 uncertain significance Majeed syndrome 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 173 of the LPIN2 protein (p.Ala173Thr). This variant is present in population databases (rs140609636, gnomAD 0.1%). 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: 536355). 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. 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 RCV002263881 SCV002543585 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000644770 SCV003817042 uncertain significance Majeed syndrome 2023-08-14 criteria provided, single submitter clinical testing

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