ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)

gnomAD frequency: 0.00001  dbSNP: rs766127245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041652 SCV001205276 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001585940 SCV001817974 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Functional analysis in human cardiomyocytes showed differential protein accumulation but similar protein expression levels compared with wild type (Qin et al., 2021); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 839809; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 33455984, 27535533)
Fulgent Genetics, Fulgent Genetics RCV002481889 SCV002780139 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-09 criteria provided, single submitter clinical testing

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