Total submissions: 2
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. |