Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000519790 | SCV001918905 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000519790 | SCV001960166 | likely benign | not provided | no assertion criteria provided | clinical testing |