ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.577G>A (p.Ala193Thr)

gnomAD frequency: 0.00006  dbSNP: rs369625174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203667 SCV001374841 uncertain significance Peroxisome biogenesis disorder, complementation group K 2023-07-26 criteria provided, single submitter clinical testing 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. 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 PEX14 protein function. ClinVar contains an entry for this variant (Variation ID: 935142). This variant has not been reported in the literature in individuals affected with PEX14-related conditions. This variant is present in population databases (rs369625174, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 193 of the PEX14 protein (p.Ala193Thr).
Mayo Clinic Laboratories, Mayo Clinic RCV003480989 SCV004227743 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing BP4

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