ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)

gnomAD frequency: 0.00016  dbSNP: rs148545460
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537141 SCV000651043 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001560414 SCV001782826 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001560414 SCV001962097 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330946 SCV002633661 uncertain significance Cardiovascular phenotype 2023-04-25 criteria provided, single submitter clinical testing The p.A1588G variant (also known as c.4763C>G), located in coding exon 28 of the FLNC gene, results from a C to G substitution at nucleotide position 4763. The alanine at codon 1588 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in an autism spectrum disease cohort that underwent exome sequencing (Ji X et al. Proc Natl Acad Sci U S A, 2016 Dec;113:15054-15059). 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 RCV001560414 SCV003833079 uncertain significance not provided 2019-03-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001560414 SCV001928100 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001560414 SCV001976237 uncertain significance not provided no assertion criteria provided clinical testing

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