ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.122G>T (p.Gly41Val)

gnomAD frequency: 0.00006  dbSNP: rs369987963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815092 SCV000955535 uncertain significance Kostmann syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 41 of the HAX1 protein (p.Gly41Val). This variant is present in population databases (rs369987963, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658294). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV002269318 SCV002552837 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000815092 SCV002783476 uncertain significance Kostmann syndrome 2022-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000815092 SCV002085816 uncertain significance Kostmann syndrome 2021-02-17 no assertion criteria provided clinical testing

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