ClinVar Miner

Submissions for variant NC_000002.11:g.(?_163167345)_(163171408_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583684 SCV005063309 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-17 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 2 (c.453+2957_552delinsA) of the IFIH1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IFIH1 cause disease. This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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