ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)

gnomAD frequency: 0.00095  dbSNP: rs147135554
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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 RCV000502164 SCV000593253 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000767189 SCV000621998 uncertain significance not provided 2023-09-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001085309 SCV000754264 likely benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001337048 SCV001530609 uncertain significance Spastic paraplegia 52, autosomal recessive 2018-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848868 SCV002105906 likely benign Hereditary spastic paraplegia 2020-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000767189 SCV002541613 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing

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