ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1102G>A (p.Val368Met)

gnomAD frequency: 0.00010  dbSNP: rs781718076
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552773 SCV000650884 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998907 SCV001155253 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000998907 SCV001995536 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing Identified in a proband and father with HCM in published literature; however, it is unclear whether these individuals harbored additional cardiogenetic variants (PMID: 36286284); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36286284)
Ambry Genetics RCV002456209 SCV002739343 uncertain significance Cardiovascular phenotype 2022-08-26 criteria provided, single submitter clinical testing The p.V368M variant (also known as c.1102G>A), located in coding exon 7 of the FLNC gene, results from a G to A substitution at nucleotide position 1102. The valine at codon 368 is replaced by methionine, an amino acid with highly similar properties. 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.
Revvity Omics, Revvity RCV000998907 SCV003833097 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing

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