ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1764del (p.Ala589fs)

dbSNP: rs553669430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508798 SCV002818162 likely pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Invitae RCV001269324 SCV003514933 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-06-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 987915). This premature translational stop signal has been observed in individual(s) with periodic fevers (PMID: 33440462). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ala589Leufs*16) in the IFIH1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IFIH1 cause disease.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001269324 SCV001448261 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2020-10-04 flagged submission clinical testing

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