ClinVar Miner

Submissions for variant NC_000002.12:g.(?_162288115)_(162288375_?)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 RCV000652117 SCV000773985 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-07-31 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. A similar copy number variant has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the IFIH1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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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