ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp)

gnomAD frequency: 0.00001  dbSNP: rs768471108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546576 SCV001766114 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing Published functional studies demonstrate no damaging effect (Arnedo et al., 2014); 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: 34426522, 24202401)
Fulgent Genetics, Fulgent Genetics RCV002488367 SCV002784075 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2021-08-23 criteria provided, single submitter clinical testing

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