ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)

dbSNP: rs941318584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300917 SCV001490068 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036185 SCV005017595 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-02 criteria provided, single submitter clinical testing The p.R7G variant (also known as c.19C>G), located in coding exon 1 of the FLNA gene, results from a C to G substitution at nucleotide position 19. The arginine at codon 7 is replaced by glycine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (3/171906) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (3/74203) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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