ClinVar Miner

Submissions for variant NM_006118.3(HAX1):c.14A>C (p.Asp5Ala) (rs747374340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556301 SCV000657554 uncertain significance Severe congenital neutropenia 3, autosomal recessive 2018-10-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 5 of the HAX1 protein (p.Asp5Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs747374340, ExAC 0.002%). This variant has not been reported in the literature in individuals with a HAX1-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on HAX1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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