ClinVar Miner

Submissions for variant NM_020401.4(NUP107):c.353G>A (p.Arg118His)

gnomAD frequency: 0.00324  dbSNP: rs34347775
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954468 SCV001101103 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502960 SCV002809098 likely benign Nephrotic syndrome, type 11; Ovarian dysgenesis 6; Galloway-Mowat syndrome 7 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548260 SCV003754798 likely benign Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000954468 SCV005330151 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing NUP107: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000954468 SCV001930170 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954468 SCV001965841 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003978266 SCV004787767 likely benign NUP107-related disorder 2020-12-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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