ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp)

dbSNP: rs387907054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314557 SCV004014448 likely pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein function (Lpez-Hernndez et al., 2011; Arnedo et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20517947, 21419380, 22405205, 24647135, 21624973, 31960914, 25044933)
OMIM RCV002280810 SCV000045199 pathogenic MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 2011-04-08 no assertion criteria provided literature only

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