ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2934G>A (p.Val978=)

gnomAD frequency: 0.00002  dbSNP: rs771749289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498887 SCV001703641 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815569 SCV002063153 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037398 SCV005017694 uncertain significance Cardiovascular phenotype 2024-01-19 criteria provided, single submitter clinical testing The c.2934G>A variant (also known as p.V978V), located in coding exon 20 of the FLNC gene, results from a G to A substitution at nucleotide position 2934. This nucleotide substitution does not change the valine at codon 978. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this alteration remains unclear.

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