ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)

gnomAD frequency: 0.00004  dbSNP: rs746751083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546299 SCV000651118 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000598569 SCV000710044 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNC gene. The G2130G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G2130G variant is observed in 3/17246 (0.017%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV002367915 SCV002661141 likely benign Cardiovascular phenotype 2020-09-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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