ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)

dbSNP: rs1807853629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040076 SCV001203631 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 838514). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.142_162dup, results in the insertion of 7 amino acid(s) of the FLNC protein (p.Glu48_Gly54dup), but otherwise preserves the integrity of the reading frame.
Mayo Clinic Laboratories, Mayo Clinic RCV003480914 SCV004224099 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing PM2_supporting, PM4

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