ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5842+7C>T

gnomAD frequency: 0.00005  dbSNP: rs370905549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875636 SCV001018089 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736933 SCV004563311 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing The FLNC c.5842+7C>T variant (rs370905549), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 705377). This variant is found in the non-Finnish European population with an allele frequency of 0.015% (19/128,612 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by creating a novel cryptic donor splice site. Due to limited information, the clinical significance of this variant is uncertain at this time.

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