ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.215A>G (p.Glu72Gly)

dbSNP: rs1057518685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414950 SCV000328779 likely pathogenic Alexander disease 2015-04-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GFAP (NM_002055.4, c.215A>G) and MPZ (homozygous deletion of exons 4-6) in one individual with reported features that included global developmental delay, delayed speech, developmental regression, intellectual disability, Alexander disease with dystonia, leukodystrophy, nystagmus, seizure disorder, macrocephaly, osteoporosis, scoliosis/kyphosis, hip dysplasia and dislocation, eczema, chronic lung disease, and constipation.

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