Submissions for variant NM_001458.5(FLNC):c.6864C>T (p.Val2288=)

gnomAD frequency: 0.00004  dbSNP: rs761269440

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649206	SCV000771031	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-22	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV001701428	SCV002073459	likely benign	not specified	2022-01-17	criteria provided, single submitter	clinical testing	This synonymous variant has occurred in GnomAD with a total MAF of 0.0048% and with the highest MAF of 0.0077% in the European population. This position is not conserved. In silico splicing algorithm predicted no impact on splicing, but no functional studies were performed to confirm this prediction. This variant NM_001458.5(FLNC):c.6864C>T (p.Val2288=) is present in the ClinVar database (ID: 539468). The variant has not occurred in the literature in association with the disease. Considering that the variant has a relatively high frequency in a subpopulation, it has been classified as Likely Benign.
Ambry Genetics	RCV002360627	SCV002662865	likely benign	Cardiovascular phenotype	2019-06-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486912	SCV004240673	likely benign	Cardiomyopathy	2023-01-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701428	SCV001925362	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703223	SCV001927528	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001703223	SCV001953217	likely benign	not provided		no assertion criteria provided	clinical testing