ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6769+4G>A

dbSNP: rs2148103785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253007 SCV002523063 uncertain significance See cases 2022-03-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003774742 SCV004583751 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-10-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1690589). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 40 of the FLNA gene. It does not directly change the encoded amino acid sequence of the FLNA protein. It affects a nucleotide within the consensus splice site.

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