ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) (rs201093148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514558 SCV000609936 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000196132 SCV000709244 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000196132 SCV000250419 uncertain significance not specified 2014-12-01 criteria provided, single submitter clinical testing The D605N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D605N 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 among mammals. The D605N variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, the D605N variant has also been reported at a low frequency (0.06%) in the 1000 Genomes Project. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, missense mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of 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 TAAD
Invitae RCV000226637 SCV000287139 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-05-08 criteria provided, single submitter clinical testing

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