ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.664del (p.Leu222fs)

dbSNP: rs1571563769
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008109 SCV001167859 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24781758, 22290197, 29193663, 25693842, 29430868, 24065543, 24700674, 32056211, 33144682)
Revvity Omics, Revvity RCV001775007 SCV004236950 pathogenic Hereditary spastic paraplegia 47 2023-05-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001775007 SCV004806266 pathogenic Hereditary spastic paraplegia 47 2024-03-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001775007 SCV005088735 pathogenic Hereditary spastic paraplegia 47 2020-02-01 criteria provided, single submitter clinical testing This variant has been previously reported in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis, intellectual disability, seizures, periventricular white matter changes and thin corpus callosum in homozygous state and absent in controls studied [PMID: 22290197].
OMIM RCV001775007 SCV000044931 pathogenic Hereditary spastic paraplegia 47 2012-02-01 no assertion criteria provided literature only
Novin Medical Genetic Laboratory RCV001775007 SCV002004103 pathogenic Hereditary spastic paraplegia 47 2019-02-02 no assertion criteria provided clinical testing A homozygous mutation p.L54Cfs*30 detected in a 9 year-old Iranian girl with initial diagnosis as Cerebral Palsy. Symptoms is as following: microcephaly, mental retardation, seizure, speech problems and muscle spasm.
Yale Center for Mendelian Genomics, Yale University RCV001849469 SCV002106834 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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