ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3207+8G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720643 SCV005329402 uncertain significance Frontometaphyseal dysplasia 1 2023-05-20 criteria provided, single submitter clinical testing The splice region variant c.3207+8G>A in FLNA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. This splice region variant in intron 21 affects the position eight nucleotides downstream of exon 21. The variant is predicted to be damaging as per SpliceAI prediction tool. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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