ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) (rs782447567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197586 SCV000250408 uncertain significance not provided 2015-04-28 criteria provided, single submitter clinical testing p.Arg190Gln (R190Q) CGG>CAG: c.569 G>A in exon 3 of the FLNA gene (NM_001456.3)A variant of unknown significance has been identified in the FLNA gene. The R190Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R190Q variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R190Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with PH, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-PANCARD
Fulgent Genetics,Fulgent Genetics RCV000764866 SCV000896022 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia; Frontometaphyseal dysplasia 1 2018-10-31 criteria provided, single submitter clinical testing

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