ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) (rs375205247)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247105 SCV000320281 likely benign Cardiovascular phenotype 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Ambry Genetics RCV000718192 SCV000849054 likely benign History of neurodevelopmental disorder 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000198225 SCV000250397 uncertain significance not specified 2016-01-28 criteria provided, single submitter clinical testing The Asn2109Ser missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Asn2109Ser alters a position that is conserved through mammals in the Filamin 19 repeat domain of the FLNA protein. However, the amino acid substitution is conservative as both Asparagine and Serine are uncharged, polar amino acid residues. In addition, in silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Asn2109Ser is a disease-causing mutation or a rare benign variant.
Invitae RCV000549769 SCV000639819 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-12-26 criteria provided, single submitter clinical testing

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