ClinVar Miner

Submissions for variant NC_000002.11:g.(?_163128716)_(163134858_?)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 RCV001989994 SCV002232638 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 9-13 of the IFIH1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. A similar copy number variant has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). 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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