ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr)

gnomAD frequency: 0.00011  dbSNP: rs200702071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512581 SCV001720026 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001512581 SCV001790681 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002071879 SCV002495763 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2021-03-17 criteria provided, single submitter clinical testing FAT4 NM_024582.4 exon 9 p.Ala3149Thr (c.9445G>A): This variant has not been reported in the literature but is present in 0.03% (5/15258) of Latino alleles, as well as 1 homozygote in South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/4-125450461-G-A?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004980576 SCV005579842 likely benign Inborn genetic diseases 2024-07-25 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.

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