ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1099C>T (p.Arg367Trp)

gnomAD frequency: 0.00005  dbSNP: rs569348805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283223 SCV002571462 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25496299)
Baylor Genetics RCV003147752 SCV003834897 uncertain significance Hereditary spastic paraplegia 50 2021-01-11 criteria provided, single submitter clinical testing

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