ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)

dbSNP: rs57590980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000056865 SCV002201302 pathogenic not provided 2023-03-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 66468). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn77 amino acid residue in GFAP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23364391). 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 missense change has been observed in individual(s) with Alexander disease (PMID: 15732097, 17894839, 26478912). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 77 of the GFAP protein (p.Asn77Ser).
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056865 SCV000087978 not provided not provided no assertion provided not provided
GeneReviews RCV000192107 SCV000222963 not provided Alexander disease no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000192107 SCV001469164 pathogenic Alexander disease 2020-02-05 no assertion criteria provided clinical testing

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