ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.776C>G (p.Ala259Gly)

gnomAD frequency: 0.00003  dbSNP: rs760511367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029171 SCV002297471 uncertain significance Immunodeficiency 39 2023-05-19 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IRF7 protein function. ClinVar contains an entry for this variant (Variation ID: 1504949). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs760511367, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 272 of the IRF7 protein (p.Ala272Gly). 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 RCV004046135 SCV003646979 uncertain significance not specified 2022-10-12 criteria provided, single submitter clinical testing The c.815C>G (p.A272G) alteration is located in exon 6 (coding exon 6) of the IRF7 gene. This alteration results from a C to G substitution at nucleotide position 815, causing the alanine (A) at amino acid position 272 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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