ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)

gnomAD frequency: 0.00006  dbSNP: rs374764212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527622 SCV000651002 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001575518 SCV001802531 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002350339 SCV002623411 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The p.P1258S variant (also known as c.3772C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3772. The proline at codon 1258 is replaced by serine, an amino acid with 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 RCV001575518 SCV003833131 uncertain significance not provided 2021-05-12 criteria provided, single submitter clinical testing

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