ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)

gnomAD frequency: 0.00003  dbSNP: rs768941858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692071 SCV000819878 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
GeneDx RCV001766484 SCV001999027 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing Reported in an adult patient with myofibrillar myopathy (MFM) and lower motor neuron (LMN) syndrome (Chen et al., 2019); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 571045; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31421687)
Ambry Genetics RCV002360746 SCV002662680 uncertain significance Cardiovascular phenotype 2022-04-29 criteria provided, single submitter clinical testing The p.V2375I variant (also known as c.7123G>A), located in coding exon 42 of the FLNC gene, results from a G to A substitution at nucleotide position 7123. The valine at codon 2375 is replaced by isoleucine, an amino acid with highly similar properties. This alteration has been reported in an individual with features of myofibrillar myopathy (Chen J et al. BMC Neurol, 2019 Aug;19:198). An alternate amino acid substitution at this codon, p.V2375F, was reported in one individual with hypertrophic cardiomyopathy; however clinical details were limited (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:[Epub ahead of print]). This amino acid position is highly 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.
Revvity Omics, Revvity RCV001766484 SCV003833030 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing

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