ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)

gnomAD frequency: 0.00026  dbSNP: rs191293931
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767079 SCV000655687 benign Myoclonic-atonic epilepsy 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315024 SCV000847618 likely benign Inborn genetic diseases 2019-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Eurofins Ntd Llc (ga) RCV000734754 SCV000862922 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003444575 SCV000895524 uncertain significance Myoclonic-astatic epilepsy 2018-10-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003444575 SCV000898983 uncertain significance Myoclonic-astatic epilepsy 2021-03-30 criteria provided, single submitter clinical testing SLC6A1 NM_003042.3 exon 12 p.Arg417His (c.1250G>A): This variant has not been reported in the literature but is present in 0.02% (9/34294) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/3-11070965-G-A). This variant is present in ClinVar (Variation ID:475469). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Athena Diagnostics Inc RCV000734754 SCV001879858 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000734754 SCV001910307 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
New York Genome Center RCV003444575 SCV002548738 uncertain significance Myoclonic-astatic epilepsy 2021-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734754 SCV004146952 benign not provided 2022-11-01 criteria provided, single submitter clinical testing SLC6A1: PP2, BS1, BS2

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