Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
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, |
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. |