ClinVar Miner

Submissions for variant NM_006118.3(HAX1):c.428G>C (p.Gly143Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697014 SCV000825604 uncertain significance Severe congenital neutropenia 3, autosomal recessive 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 143 of the HAX1 protein (p.Gly143Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs755031266, ExAC 0.04%), including at least one homozygous and/or hemizygous individual. This variant has been reported in the heterozygous state in an individual affected with severe congenital neutropenia (PMID: 19036076). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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