ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)

gnomAD frequency: 0.00001  dbSNP: rs782287086
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714633 SCV000845346 uncertain significance Frontometaphyseal dysplasia 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714634 SCV000845347 uncertain significance FG syndrome 2 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002532972 SCV003287553 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892576 SCV004709498 uncertain significance FLNA-related condition 2023-11-01 criteria provided, single submitter clinical testing The FLNA c.2122C>T variant is predicted to result in the amino acid substitution p.Arg708Trp. This variant has been reported hemizygous in a fetus with omphalocele (Chen et al. 2020. PubMed ID: 32502767, Table 3). It has been reported in only 3 of ~182,000 alleles (~0.002%) in the gnomAD public population database (https://gnomad.broadinstitute.org/variant/X-153592641-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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