ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)

gnomAD frequency: 0.00001  dbSNP: rs1683546966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367796 SCV001564161 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 52 of the IFIH1 protein (p.Thr52Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1058635). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt IFIH1 function with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV003132477 SCV003810012 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629615 SCV005123649 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.155C>A (p.T52N) alteration is located in exon 1 (coding exon 1) of the IFIH1 gene. This alteration results from a C to A substitution at nucleotide position 155, causing the threonine (T) at amino acid position 52 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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