ClinVar Miner

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

dbSNP: rs28935472
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523000 SCV000617410 pathogenic not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21228480, 27193221, 29575627, 12612583)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000012524 SCV001976842 pathogenic Melnick-Needles syndrome 2021-10-05 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP5
CeGaT Center for Human Genetics Tuebingen RCV000523000 SCV004165107 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing FLNA: PP4:Strong, PM1, PM2, PS4:Moderate, PP1
OMIM RCV000012524 SCV000032758 pathogenic Melnick-Needles syndrome 2018-01-04 no assertion criteria provided literature only
GeneReviews RCV000012524 SCV000040826 not provided Melnick-Needles syndrome no assertion provided literature only

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