ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)

gnomAD frequency: 0.00001  dbSNP: rs752027152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026892 SCV000850130 uncertain significance not specified 2016-08-08 criteria provided, single submitter clinical testing The p.G148D variant (also known as c.443G>A), located in coding exon 2 of the KIAA2022 gene, results from a G to A substitution at nucleotide position 443. The glycine at codon 148 is replaced by aspartic acid, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533033 SCV003508128 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 589350). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This variant is present in population databases (rs752027152, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 148 of the NEXMIF protein (p.Gly148Asp).
Revvity Omics, Revvity RCV003489841 SCV004235586 uncertain significance X-linked intellectual disability, Cantagrel type 2023-02-13 criteria provided, single submitter clinical testing

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