ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3966C>T (p.Gly1322=) (rs200237564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724251 SCV000228030 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000176382 SCV000681379 uncertain significance not specified 2018-01-31 criteria provided, single submitter clinical testing The c.3966 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 163/126,102 (0.13%) alleles from individuals of European background (Lek et al., 2016). This nucleotide change results in a synonymous amino acid substitution at a position that is not conserved. Multiple in silico algorithms predict c.3966 C>T may create a cryptic splice donor site and alter gene splicing; however, in the absence of RNA/functional studies the actual effect of c.3966 C>T on splicing in this individual is unknown.
Invitae RCV000530295 SCV000651011 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-12-26 criteria provided, single submitter clinical testing

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