ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)

gnomAD frequency: 0.00005  dbSNP: rs574878636
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867161 SCV001008357 likely benign Hereditary spastic paraplegia 50 2023-07-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000867161 SCV001527125 uncertain significance Hereditary spastic paraplegia 50 2018-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001816977 SCV002071427 uncertain significance not specified 2017-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334024 SCV004042308 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing AP4M1: BS1

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