ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)

gnomAD frequency: 0.00002  dbSNP: rs765060493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768235 SCV000898744 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2018-10-15 criteria provided, single submitter clinical testing IFIH1 NM_022168.3 exon 9 p.Met567Ile (c.1701G>A): This variant has not been reported in the literature but is present in 0.03% (7/18144) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-163134779-C-T). This variant amino acid Isoleucine (Ile) is present in 10 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768235 SCV002205307 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533938 SCV003724434 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1701G>A (p.M567I) alteration is located in exon 9 (coding exon 9) of the IFIH1 gene. This alteration results from a G to A substitution at nucleotide position 1701, causing the methionine (M) at amino acid position 567 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224443 SCV003920042 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-03-30 criteria provided, single submitter clinical testing IFIH1 NM_022168.3 exon 9 p.Met567Ile (c.1701G>A): This variant has not been reported in the literature but is present in 0.03% (7/18144) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-163134779-C-T). This variant amino acid Isoleucine (Ile) is present in 10 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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