ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu)

gnomAD frequency: 0.00002  dbSNP: rs369250297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558130 SCV000651142 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001566239 SCV001789727 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing Identified in a patient with dilated cardiomyopathy in the published literature (Ader et al., 2018); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472152; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 30418145)
Ambry Genetics RCV002367925 SCV002664311 likely benign Cardiovascular phenotype 2024-05-23 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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