ClinVar Miner

Submissions for variant NM_016004.5(IFT52):c.931G>A (p.Glu311Lys)

gnomAD frequency: 0.00024  dbSNP: rs145672738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857886 SCV002128321 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 311 of the IFT52 protein (p.Glu311Lys). This variant is present in population databases (rs145672738, gnomAD 0.06%). This missense change has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446694). 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 IFT52 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.
Dan Cohn Lab, University Of California Los Angeles RCV000515811 SCV000612131 uncertain significance Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515811 SCV001479709 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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