ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln)

gnomAD frequency: 0.00001  dbSNP: rs1342098183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368077 SCV001564455 uncertain significance not provided 2023-01-09 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 574171). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 836 of the NEXMIF protein (p.His836Gln).
Fulgent Genetics, Fulgent Genetics RCV000696031 SCV002776007 uncertain significance X-linked intellectual disability, Cantagrel type 2021-11-17 criteria provided, single submitter clinical testing

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