ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)

gnomAD frequency: 0.00025  dbSNP: rs201908251
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705112 SCV000250386 likely benign not provided 2019-04-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27724990)
Invitae RCV000227564 SCV000287145 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-04 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659663 SCV000781506 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453720 SCV002614337 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503765 SCV002808536 likely benign 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 2022-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705112 SCV004010971 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FLNA: PP2, BS2

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