ClinVar Miner

Submissions for variant NC_000007.13:g.(?_128475360)_(128478877_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003107414 SCV003793595 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-10-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-8 of the FLNC 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 FLNC-related conditions. This variant disrupts a region of the FLNC protein in which other variant(s) (p.Ala193Thr) have been determined to be pathogenic (PMID: 2781633, 21620354, 30734317). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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