ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.1568T>C (p.Val523Ala) (rs182845462)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482713 SCV000565016 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing The V523A variant of uncertain significance in the FLNC gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 55/277156 (0.02%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). The V523A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000649256 SCV000771081 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-08-31 criteria provided, single submitter clinical testing

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