ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal)

dbSNP: rs863223631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232254 SCV000639769 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-02-08 criteria provided, single submitter clinical testing This variant, c.2254_2268delinsCCCTTCAGGGTG, is a complex sequence change that results in the deletion of five amino acids of the FLNA protein and the insertion of four amino acids (p.Val752_Asn756delinsProPheArgVal). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FLNA-related disease. In summary, this variant is a novel in-frame complex sequence change and the impact of this change is uncertain. Therefore, it has been classified as a Variant of Uncertain Significance.

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