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
Invitae RCV000558130 SCV000651142 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 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 uncertain significance Cardiovascular phenotype 2023-08-14 criteria provided, single submitter clinical testing The p.P2308L variant (also known as c.6923C>T), located in coding exon 41 of the FLNC gene, results from a C to T substitution at nucleotide position 6923. The proline at codon 2308 is replaced by leucine, an amino acid with similar properties. This alteration has been detected in individuals reported to have cardiomyopathy; however, details were limited (Ader F et al. Med Sci (Paris), 2018 Nov;34 Hors série n°2:39-41; Smith E et al. J Am Heart Assoc. 2022 May;11(9):e024501). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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