ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)

gnomAD frequency: 0.00001  dbSNP: rs755832014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222620 SCV001394729 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032448 SCV003565837 uncertain significance Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing The p.S1391L variant (also known as c.4172C>T), located in coding exon 24 of the FLNC gene, results from a C to T substitution at nucleotide position 4172. The serine at codon 1391 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Revvity Omics, Revvity RCV003145417 SCV003833172 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing

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