ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4599-1G>A (rs1057518223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414514 SCV000491674 likely pathogenic not provided 2016-11-10 criteria provided, single submitter clinical testing The c.4599-1 G>A likely pathogenic variant in the FLNA gene has not been reported as a pathogenic or benign variant to our knowledge. This single nucleotide substitution disrupts the intron 27 canonical splice acceptor and is predicted to cause abnormal gene splicing. Many other splice site variants in the FLNA gene have been reported in HGMD in association with PH (Stenson et al., 2014). Furthermore, the c.4599-1 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and was not present in Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. In summary, the c.4599-1 G>A variant in the FLNA gene is expected to be pathogenic
Athena Diagnostics Inc RCV000414514 SCV000613327 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing

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