ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)

dbSNP: rs143623535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498731 SCV000590478 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 432723; Landrum et al., 2016)
Invitae RCV001086180 SCV000771029 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329185 SCV002626751 uncertain significance Cardiovascular phenotype 2023-10-04 criteria provided, single submitter clinical testing The p.R1434L variant (also known as c.4301G>T), located in coding exon 25 of the FLNC gene, results from a G to T substitution at nucleotide position 4301. The arginine at codon 1434 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in a left ventricular non-compaction (LVNC) cohort and a pediatric cardiomyopathy cohort; however, clinical details were limited in both cases (Richard P et al. Clin Genet, 2019 Mar;95:356-367; Ware SM et al. Am J Hum Genet, 2022 Feb;109:282-298). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000498731 SCV003800380 likely benign not provided 2022-09-20 criteria provided, single submitter clinical testing

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