ClinVar Miner

Submissions for variant NC_000009.11:g.(?_108397312)_(108397545_?)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 RCV003122458 SCV003791046 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-12-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the FKTN gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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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