ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.889G>A (p.Gly297Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003174181 SCV003870886 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.889G>A (p.G297R) alteration is located in exon 6 (coding exon 6) of the NFIX gene. This alteration results from a G to A substitution at nucleotide position 889, causing the glycine (G) at amino acid position 297 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003779615 SCV004582721 uncertain significance Marshall-Smith syndrome; Malan overgrowth syndrome 2023-08-23 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 305 of the NFIX protein (p.Gly305Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NFIX-related conditions. ClinVar contains an entry for this variant (Variation ID: 2458769). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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