ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)

gnomAD frequency: 0.00001  dbSNP: rs137853311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753412 SCV001985473 uncertain significance not provided 2020-09-16 criteria provided, single submitter clinical testing Has been reported in a male patient with sporadic periventricular heterotopia in published literature (Sheen et al., 2001); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11532987, 22366253)
Labcorp Genetics (formerly Invitae), Labcorp RCV001857335 SCV002129292 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-06-21 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002273924 SCV002559095 likely pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
OMIM RCV000012518 SCV000032752 pathogenic Heterotopia, periventricular, X-linked dominant 2001-08-15 no assertion criteria provided literature only

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