ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)

dbSNP: rs782308324
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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 RCV001882924 SCV002140142 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370416 SCV002672423 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-21 criteria provided, single submitter clinical testing The p.R2411G variant (also known as c.7231C>G), located in coding exon 43 of the FLNA gene, results from a C to G substitution at nucleotide position 7231. The arginine at codon 2411 is replaced by glycine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0005% (1/181724) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.001% (1/81453) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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