ClinVar Miner

Submissions for variant NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)

gnomAD frequency: 0.00034  dbSNP: rs201649896
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175859 SCV000227429 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000234933 SCV000466329 likely benign Childhood apraxia of speech 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV002336427 SCV002644615 benign Inborn genetic diseases 2019-03-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV000175859 SCV004158920 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FOXP2: BS1
PreventionGenetics, part of Exact Sciences RCV003927612 SCV004741922 likely benign FOXP2-related condition 2019-06-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews RCV000234933 SCV000292263 not provided Childhood apraxia of speech no assertion provided literature only

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