ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)

gnomAD frequency: 0.00235  dbSNP: rs150869428
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767978 SCV000898712 uncertain significance Leukocyte adhesion deficiency 3 2021-03-30 criteria provided, single submitter clinical testing FERMT3 NM_178443 exon 6 p.Ala246Thr (c.736G>A): This variant has not been reported in the literature but is present in 0.7% (170/24026) African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs150869428). This variant amino acid Threonine (Thr) is present in >20 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000767978 SCV001053223 benign Leukocyte adhesion deficiency 3 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV002293478 SCV002586539 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002533929 SCV003548861 likely benign Inborn genetic diseases 2022-02-10 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.
PreventionGenetics, part of Exact Sciences RCV003892690 SCV004722489 benign FERMT3-related disorder 2020-01-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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