ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002899883 SCV003244798 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003274064 SCV004004593 uncertain significance Cardiovascular phenotype 2023-04-06 criteria provided, single submitter clinical testing The c.3888G>A variant (also known as p.S1296S), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3888. This nucleotide substitution does not change the serine at codon 1296. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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