ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)

gnomAD frequency: 0.00002  dbSNP: rs556913973
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519790 SCV000620613 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing The c.3372 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3372 G>A variant is observed in 3/16,512 (0.02%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide change results in a synonymous amino acid substitution at a position that is not conserved. Multiple in silico algorithms predict c.3372 G>A creates a cryptic splice acceptor site which may alter gene splicing; however, in the absence of RNA/functional studies the actual effect of c.3372 G>A on splicing in this individual is unknown.
Invitae RCV001373804 SCV001570536 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023606 SCV005017699 uncertain significance Cardiovascular phenotype 2024-02-21 criteria provided, single submitter clinical testing The c.3372G>A variant (also known as p.T1124T), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3372. This nucleotide substitution does not change the threonine at codon 1124. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV000519790 SCV001918905 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000519790 SCV001960166 likely benign not provided no assertion criteria provided clinical testing

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