ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)

gnomAD frequency: 0.00002  dbSNP: rs781928289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219151 SCV001391072 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370002 SCV002625133 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-22 criteria provided, single submitter clinical testing The p.R1312C variant (also known as c.3934C>T), located in coding exon 22 of the FLNA gene, results from a C to T substitution at nucleotide position 3934. The arginine at codon 1312 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and cysteine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987692 SCV004803574 uncertain significance not specified 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genetics, Amsterdam Medical Centre RCV000754796 SCV000882574 uncertain significance Hydronephrosis; Myopia; Abnormality of the dentition; Microcephaly; Intellectual disability, severe; Ventricular septal defect 2019-01-29 no assertion criteria provided clinical testing

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