ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)

dbSNP: rs62636501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000192162 SCV002059029 pathogenic Alexander disease 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with GFAP related disorder (ClinVar ID: VCV000066431, PMID:21533827 PS1_S). The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.955, 3CNET: 0.992, PP3_P). A missense variant is a common mechanism associated with Alexander disease (PP2_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056824 SCV000087937 not provided not provided no assertion provided not provided
GeneReviews RCV000192162 SCV000223027 pathogenic Alexander disease 2015-01-08 no assertion criteria provided literature only

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