ClinVar Miner

Submissions for variant NM_016004.5(IFT52):c.157G>A (p.Val53Met)

gnomAD frequency: 0.00043  dbSNP: rs137979762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945974 SCV002203615 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 53 of the IFT52 protein (p.Val53Met). This variant is present in population databases (rs137979762, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with IFT52-related conditions. ClinVar contains an entry for this variant (Variation ID: 1427662). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243484 SCV002512572 uncertain significance Short-rib thoracic dysplasia 16 with or without polydactyly 2021-07-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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