ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.583G>A (p.Val195Met)

gnomAD frequency: 0.00003  dbSNP: rs778671805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231971 SCV001404510 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 195 of the CYBA protein (p.Val195Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. While this variant is present in population databases (rs778671805), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with CYBA-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably 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.
Natera, Inc. RCV001836186 SCV002089417 uncertain significance Chronic granulomatous disease 2020-07-05 no assertion criteria provided clinical testing

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