ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.395C>T (p.Thr132Met)

gnomAD frequency: 0.00016  dbSNP: rs562308643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687473 SCV000815039 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 132 of the CYBA protein (p.Thr132Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CYBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 567401). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003163115 SCV003886199 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.395C>T (p.T132M) alteration is located in exon 6 (coding exon 6) of the CYBA gene. This alteration results from a C to T substitution at nucleotide position 395, causing the threonine (T) at amino acid position 132 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271484 SCV001452673 uncertain significance Chronic granulomatous disease 2019-10-28 no assertion criteria provided clinical testing

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