ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)

gnomAD frequency: 0.00003  dbSNP: rs367655833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659674 SCV000781517 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533445 SCV004114029 uncertain significance FLNA-related disorder 2023-01-13 criteria provided, single submitter clinical testing The FLNA c.6466G>A variant is predicted to result in the amino acid substitution p.Val2156Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0052% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-153580957-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003767912 SCV004603512 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-08-24 criteria provided, single submitter clinical testing

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