ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter)

dbSNP: rs1559809132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332460 SCV001524791 uncertain significance Aicardi-Goutieres syndrome 7 2020-08-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546564 SCV002961998 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-09-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). 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: 1030802). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln879*) 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.

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