ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)

gnomAD frequency: 0.00001  dbSNP: rs781852373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318721 SCV000850049 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-23 criteria provided, single submitter clinical testing The p.R563H variant (also known as c.1688G>A), located in coding exon 10 of the FLNA gene, results from a G to A substitution at nucleotide position 1688. The arginine at codon 563 is replaced by histidine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6324 samples with coverage at this position. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001224183 SCV001396366 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-29 criteria provided, single submitter clinical testing

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