ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) (rs377390031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170413 SCV000222842 uncertain significance Periventricular nodular heterotopia 1 2014-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000195731 SCV000250390 uncertain significance not specified 2014-07-17 criteria provided, single submitter clinical testing p.Asp1354Asn (GAC>AAC): c.4060 G>A in exon 24 of the FLNA gene (NM_001456.3)A variant of unknown significance has been identified in the FLNA gene. The D1354N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D1254N variant was not observed with any significant frequency in approximately 6,100 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 D1354N 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 across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Moreover, no missense mutations in nearby residues have been reported in association with FLNA-related disorders, indicating that 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 RCV000640771 SCV000762370 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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