ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr)

gnomAD frequency: 0.00001  dbSNP: rs750254727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315930 SCV001506524 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034379 SCV004871159 uncertain significance Cardiovascular phenotype 2023-12-13 criteria provided, single submitter clinical testing The c.4979T>C (p.I1660T) alteration is located in exon 30 (coding exon 30) of the FLNC gene. This alteration results from a T to C substitution at nucleotide position 4979, causing the isoleucine (I) at amino acid position 1660 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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