ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)

gnomAD frequency: 0.00003  dbSNP: rs769243979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788732 SCV000927953 uncertain significance not provided 2018-09-25 criteria provided, single submitter clinical testing
Invitae RCV001869210 SCV002294501 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000788732 SCV003831443 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000788732 SCV003845676 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25794154)
PreventionGenetics, part of Exact Sciences RCV003411733 SCV004109955 uncertain significance FLNC-related disorder 2023-02-21 criteria provided, single submitter clinical testing The FLNC c.3464C>T variant is predicted to result in the amino acid substitution p.Pro1155Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128484983-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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