ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) (rs28935472)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523000 SCV000617410 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing The A1188T variant in the FLNA gene has been reported previously both as a de novo and inherited pathogenic variant in multiple females from several unrelated families with clinical diagnoses of Melnick-Needles syndrome (Robertson et al., 2003; Moutton et al., 2016). The variant is not observed in large population cohorts (Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A1188T as a pathogenic variant.
OMIM RCV000012524 SCV000032758 pathogenic Melnick-Needles syndrome 2018-01-04 no assertion criteria provided literature only
GeneReviews RCV000012524 SCV000040826 pathologic Melnick-Needles syndrome 2008-07-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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