ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)

gnomAD frequency: 0.00005  dbSNP: rs199814952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309258 SCV001498753 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001760373 SCV001989953 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002456400 SCV002615117 uncertain significance Cardiovascular phenotype 2021-02-04 criteria provided, single submitter clinical testing The c.3502G>A (p.G1168S) alteration is located in exon 21 (coding exon 21) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 3502, causing the glycine (G) at amino acid position 1168 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001760373 SCV003831448 uncertain significance not provided 2019-12-24 criteria provided, single submitter clinical testing

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