ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)

gnomAD frequency: 0.00004  dbSNP: rs369991887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001447944 SCV001651024 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359002 SCV002658413 uncertain significance Cardiovascular phenotype 2021-05-16 criteria provided, single submitter clinical testing The c.6048C>T variant (also known as p.S2016S), located in coding exon 37 of the FLNC gene, results from a C to T substitution at nucleotide position 6048. This nucleotide substitution does not change the amino acid at codon 2016. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150432 SCV003837908 likely benign Cardiomyopathy 2022-06-24 criteria provided, single submitter clinical testing

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