ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.234C>A (p.Asp78Glu)

dbSNP: rs121909720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556033 SCV004298240 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp78 amino acid residue in GFAP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26743065). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GFAP protein function. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 78 of the GFAP protein (p.Asp78Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Alexander disease (PMID: 12975300). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16179).
OMIM RCV000017562 SCV000037834 pathogenic Alexander disease 2003-09-01 no assertion criteria provided literature only
GeneReviews RCV000017562 SCV000222965 not provided Alexander disease no assertion provided literature only

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