ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)

gnomAD frequency: 0.00018  dbSNP: rs141278078
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499907 SCV000593240 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000499907 SCV000724441 likely benign not specified 2017-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516813 SCV001725164 benign Spastic paraplegia 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524151 SCV003655898 likely benign Inborn genetic diseases 2021-12-19 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 RCV003392327 SCV004130479 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing AP4E1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003932814 SCV004747900 likely benign AP4E1-related disorder 2023-03-21 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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