ClinVar Miner

Submissions for variant NM_014669.5(NUP93):c.621C>G (p.Asp207Glu)

gnomAD frequency: 0.00080  dbSNP: rs140226964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001029893 SCV002783002 uncertain significance Nephrotic syndrome, type 12 2021-11-12 criteria provided, single submitter clinical testing
Invitae RCV002552434 SCV003449879 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 207 of the NUP93 protein (p.Asp207Glu). This variant is present in population databases (rs140226964, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with NUP93-related conditions. ClinVar contains an entry for this variant (Variation ID: 829938). 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 NUP93 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029893 SCV001192684 uncertain significance Nephrotic syndrome, type 12 2019-03-21 no assertion criteria provided clinical testing

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