ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161323614)_(161323670_?)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 RCV000476273 SCV000563858 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2016-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the SDHC gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has been reported in the literature in an individual affected with paraganglioma (PMID: 19454582). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. It has been reported in an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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