ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)

dbSNP: rs372497581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805817 SCV000945788 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
GeneDx RCV001577432 SCV001804805 uncertain significance not provided 2019-10-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002332645 SCV002634200 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.R334C variant (also known as c.1000C>T), located in coding exon 6 of the FLNC gene, results from a C to T substitution at nucleotide position 1000. The arginine at codon 334 is replaced by cysteine, an amino acid with highly dissimilar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002501083 SCV002777367 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001577432 SCV003831428 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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