Submissions for variant NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro)

dbSNP: rs766592492

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001067768	SCV001232847	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418551	SCV002726903	uncertain significance	Cardiovascular phenotype	2021-02-08	criteria provided, single submitter	clinical testing	The p.R695P variant (also known as c.2084G>C), located in coding exon 13 of the FLNC gene, results from a G to C substitution at nucleotide position 2084. The arginine at codon 695 is replaced by proline, an amino acid with dissimilar properties. This variant has been detected in a cohort with limb-girdle weakness; however, details were limited (Töpf A et al. Genet Med, 2020 Sep;22:1478-1488). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003433011	SCV004161031	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing