Submissions for variant NM_001458.5(FLNC):c.6208+8C>G

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV002471968	SCV002767658	uncertain significance	Hypertrophic cardiomyopathy 26	2020-05-21	criteria provided, single submitter	clinical testing	A heterozygous splice site variant was identified, NM_001458.4(FLNC):c.6208+8C>G in intron 37 of 47 of the FLNC gene. This substitution may cause aberrant splicing in the FLNC gene, affecting protein function; further testing via RNA studies are required to confirm if splicing is altered. The nucleotide at this position has moderate conservation (PhyloP UCSC). In silico software does not predict an effect on splicing (NetGene2, Fruit fly, Human Splicing Finder). The variant is not present in the gnomAD population database, and has not been previously observed in clinical cases. An alternative nucleotide change at the same location has been reported in the gnomAD database at a frequency of 0.002%. Based on information available at the time of curation, this variant has been classified as a VUS with LOW CLINICAL RELEVANCE.
Invitae	RCV003775515	SCV004583396	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-06-04	criteria provided, single submitter	clinical testing