ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.43G>A (p.Val15Ile)

gnomAD frequency: 0.00014  dbSNP: rs146698039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996566 SCV001151353 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GFAP: BP4
Invitae RCV000996566 SCV001669016 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521111 SCV003692040 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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