ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004771829 SCV005382594 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 2024-10-17 criteria provided, single submitter clinical testing The c.289C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has been previously observed in a patient affected with periventricular nodular heterotopia [PMID: 26471271] and reported to the Human Genome Mutation Database (HGMD ID- CM1511624). In-silico pathogenicity prediction programs like SIFT, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a mutational hotspot region of the gene.

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