ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.971G>A (p.Ser324Asn)

gnomAD frequency: 0.00019  dbSNP: rs201411274
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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 RCV002039082 SCV002312721 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 324 of the IFNAR2 protein (p.Ser324Asn). This variant is present in population databases (rs201411274, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with IFNAR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1523705). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004044825 SCV004885837 uncertain significance not specified 2021-08-12 criteria provided, single submitter clinical testing The c.971G>A (p.S324N) alteration is located in exon 9 (coding exon 8) of the IFNAR2 gene. This alteration results from a G to A substitution at nucleotide position 971, causing the serine (S) at amino acid position 324 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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