ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4140C>T (p.Thr1380=)

gnomAD frequency: 0.00004  dbSNP: rs183668401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078932 SCV000651021 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711685 SCV000842072 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823736 SCV002073454 likely benign not specified 2022-01-17 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (472062) NM_001458.5 (FLNC): c.4140C>T (p.Thr1380=) and has occurred in GnomAD with a total MAF of 0.0212% and highest MAF of 0.2958% in the East Asian population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign.
Ambry Genetics RCV002330939 SCV002628921 likely benign Cardiovascular phenotype 2019-08-24 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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