ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1171+472G>A

dbSNP: rs748860341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479024 SCV000568704 uncertain significance not provided 2021-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 23634874, 30048824, 32126152, 30355306, 33144682)
Athena Diagnostics RCV000479024 SCV004229676 likely pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with adult-onset Alexander disease. Assessment of experimental evidence suggests this variant results in abnormal RNA splicing and protein function (PMID: 23634874, 32126152).
GeneReviews RCV000192190 SCV000223057 not provided Alexander disease no assertion provided literature only

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