ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser)

gnomAD frequency: 0.00004  dbSNP: rs777934121
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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 RCV001998983 SCV002269897 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 291 of the GTPBP3 protein (p.Asn291Ser). This variant is present in population databases (rs777934121, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GTPBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1483843). 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"). 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.
Pediatric Department, Xiangya Hospital, Central South University RCV003232995 SCV002761230 likely pathogenic Combined oxidative phosphorylation defect type 23 criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant (c.187C>T)
GeneDx RCV001998983 SCV005685741 likely pathogenic not provided 2024-07-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as N259S; This variant is associated with the following publications: (PMID: 38701254, 38327089, 35598585)

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