ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly)

gnomAD frequency: 0.00002  dbSNP: rs746991573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696383 SCV000824943 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV003238803 SCV003936228 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV003303151 SCV003998850 uncertain significance Cardiovascular phenotype 2023-05-03 criteria provided, single submitter clinical testing The p.A2329G variant (also known as c.6986C>G), located in coding exon 41 of the FLNC gene, results from a C to G substitution at nucleotide position 6986. The alanine at codon 2329 is replaced by glycine, an amino acid with similar properties. This amino acid position is well 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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