ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)

gnomAD frequency: 0.00001  dbSNP: rs769675272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001474288 SCV001678457 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-11 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823775 SCV002073397 likely benign not specified 2022-01-13 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (1138049) NM_001458.5 (FLNC): c.6123C>T (p.Ala2041=) and has occurred in GnomAD with a total MAF of 0.0008% and highest MAF of 0.0018% in the European population (NM_001458.4). 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 RCV002359062 SCV002656991 likely benign Cardiovascular phenotype 2021-07-30 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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