ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.919C>T (p.His307Tyr)

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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 RCV002638352 SCV003520581 uncertain significance Immunodeficiency 39 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IRF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 2200716). This variant is present in population databases (rs543492536, gnomAD 0.04%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 320 of the IRF7 protein (p.His320Tyr). 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. 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.
Ambry Genetics RCV004072051 SCV003555212 uncertain significance not specified 2022-07-26 criteria provided, single submitter clinical testing The c.958C>T (p.H320Y) alteration is located in exon 7 (coding exon 7) of the IRF7 gene. This alteration results from a C to T substitution at nucleotide position 958, causing the histidine (H) at amino acid position 320 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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