ClinVar Miner

Submissions for variant NM_006118.3(HAX1):c.383C>G (p.Ser128Ter) (rs1398108109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680006 SCV000807444 pathogenic Severe congenital neutropenia 3, autosomal recessive 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with another variant in a 1-year-old female with global delays, hypotonia, epilepsy, dilated aortic root, optic atrophy, macular coloboma, history of otitis media. Mutation affects both isoforms of the gene, which have been associated with neurologic symptoms (PMID: 21108402).

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