ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.302T>C (p.Leu101Pro)

dbSNP: rs267607516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003407438 SCV004109674 uncertain significance GFAP-related disorder 2023-06-06 criteria provided, single submitter clinical testing The GFAP c.302T>C variant is predicted to result in the amino acid substitution p.Leu101Pro. This variant has been reported in an individual with adult-onset Alexander disease; functional studies showed it may affect the solubility of GFAP (Kaneko et al 2009. PubMed ID: 19412928). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056882 SCV000087995 not provided not provided no assertion provided not provided
GeneReviews RCV000192123 SCV000222984 not provided Alexander disease no assertion provided literature only

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