ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs377390031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170413 SCV000222842 uncertain significance Heterotopia, periventricular, X-linked dominant 2014-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000640771 SCV000250390 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442515 SCV001645464 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321679 SCV002631348 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-08 criteria provided, single submitter clinical testing The p.D1354N variant (also known as c.4060G>A), located in coding exon 23 of the FLNA gene, results from a G to A substitution at nucleotide position 4060. The aspartic acid at codon 1354 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagineis the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000640771 SCV004225701 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing PP2

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