ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)

gnomAD frequency: 0.01854  dbSNP: rs4134932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116368 SCV000150292 benign not specified 2013-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000226883 SCV000288765 benign Hereditary spastic paraplegia 50 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000116368 SCV000519283 benign not specified 2016-03-01 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847665 SCV002105717 benign Hereditary spastic paraplegia 2021-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712036 SCV005267652 benign not provided criteria provided, single submitter not provided

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