ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)

gnomAD frequency: 0.00009  dbSNP: rs201949844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818989 SCV000959628 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001759597 SCV001997686 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 661551; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002345885 SCV002651557 uncertain significance Cardiovascular phenotype 2022-02-20 criteria provided, single submitter clinical testing The p.M1804L variant (also known as c.5410A>T), located in coding exon 33 of the FLNC gene, results from an A to T substitution at nucleotide position 5410. The methionine at codon 1804 is replaced by leucine, an amino acid with highly similar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002487818 SCV002793387 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001759597 SCV003831394 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing

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