ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)

gnomAD frequency: 0.00001  dbSNP: rs781879374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199704 SCV000250435 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680543 SCV000807953 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001857719 SCV002290232 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-02-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function. This variant has not been reported in the literature in individuals with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 213515). This variant is present in population databases (rs781879374, ExAC 0.002%). This sequence change replaces lysine with asparagine at codon 400 of the FLNA protein (p.Lys400Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.
GenomeConnect, ClinGen RCV004545760 SCV002075036 not provided FLNA-related disorder no assertion provided phenotyping only Variant identified in proband and mother. Variant interpreted as Uncertain significance and reported on 12-03-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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