ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)

gnomAD frequency: 0.00006  dbSNP: rs747587140
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649089 SCV000770914 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001575499 SCV001802506 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002358856 SCV002620579 uncertain significance Cardiovascular phenotype 2023-06-19 criteria provided, single submitter clinical testing The p.S1296L variant (also known as c.3887C>T), located in coding exon 22 of the FLNC gene, results from a C to T substitution at nucleotide position 3887. The serine at codon 1296 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493037 SCV002783197 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-20 criteria provided, single submitter clinical testing

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