ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3552C>T (p.Gly1184=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002633657 SCV003515744 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420388 SCV004117963 uncertain significance FLNC-related disorder 2023-01-30 criteria provided, single submitter clinical testing The FLNC c.3552C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128485071-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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