ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)

gnomAD frequency: 0.00104  dbSNP: rs140077535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196748 SCV000251581 uncertain significance not provided 2024-03-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 38283147, 26016410, 22700954)
Labcorp Genetics (formerly Invitae), Labcorp RCV000196748 SCV002222089 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 576 of the GFM2 protein (p.Asp576Glu). This variant is present in population databases (rs140077535, gnomAD 0.3%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with a neurodevelopmental disorder and insulin-dependent diabetes (PMID: 22700954). ClinVar contains an entry for this variant (Variation ID: 55856). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002513673 SCV003586927 likely benign Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV000196748 SCV005188627 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV000049273 SCV000077530 pathogenic Combined oxidative phosphorylation deficiency 39 2012-06-13 no assertion criteria provided literature only

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