ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) (rs199565861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414045 SCV000490412 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing The I143F variant has been reported previously in association with Canavan disease (Zeng et al., 2006). Functional analysis of the I143F variant found that it is associated with 1% residual aspartoacylase activity (Zano et al., 2013). Therefore we interpret this variant to be pathogenic.
Counsyl RCV000675094 SCV000800624 uncertain significance Spongy degeneration of central nervous system 2017-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000675094 SCV001163411 likely pathogenic Spongy degeneration of central nervous system criteria provided, single submitter clinical testing

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