ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)

gnomAD frequency: 0.00002  dbSNP: rs1032003580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314725 SCV001505269 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329265 SCV002630387 uncertain significance Cardiovascular phenotype 2022-09-02 criteria provided, single submitter clinical testing The p.I1387F variant (also known as c.4159A>T), located in coding exon 24 of the FLNC gene, results from an A to T substitution at nucleotide position 4159. The isoleucine at codon 1387 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction 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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