ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.491G>A (p.Arg164His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132529 SCV003813731 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463061 SCV004206087 likely pathogenic Fetal akinesia deformation sequence 2 2024-02-19 criteria provided, single submitter clinical testing
GeneDx RCV003132529 SCV005324897 likely pathogenic not provided 2023-11-08 criteria provided, single submitter clinical testing Observed as a homozygous variant in multiple affected and unaffected relatives in a family with limb-girdle type congenital myasthenic syndrome. Affected patients also carried a homozygous variant in another gene, suggesting digenic inheritance with the R164H variant possibly being a hypomorphic allele (PMID: 27966543); Published functional studies suggest that this variant weakens the self-association of the protein and impairs end-plate acetylcholine receptor clustering (PMID: 34033754); Not observed at significant frequency in large population cohorts (gnomAD); Located within TPR5 domain (PMID: 22678886); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 34139178, 22678886, 27966543, 19620612, 34033754)

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