ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5523C>T (p.Asp1841=)

gnomAD frequency: 0.00001  dbSNP: rs748504948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938808 SCV001084632 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346133 SCV002648707 uncertain significance Cardiovascular phenotype 2022-02-25 criteria provided, single submitter clinical testing The c.5523C>T variant (also known as p.D1841D), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5523. This nucleotide substitution does not change the aspartic acid at codon 1841. This nucleotide position is poorly 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.

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