ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)

gnomAD frequency: 0.00003  dbSNP: rs1247665387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708595 SCV000837722 likely pathogenic Hereditary spastic paraplegia 35 2017-09-29 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000708595 SCV002764690 likely pathogenic Hereditary spastic paraplegia 35 2021-01-27 criteria provided, single submitter clinical testing
GeneDx RCV005054256 SCV005687938 uncertain significance not provided 2024-07-29 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; This variant is associated with the following publications: (PMID: 29376581, 38275596, 24359114, 38353247, 31135052, 27316240)

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