ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)

gnomAD frequency: 0.00006  dbSNP: rs142498180
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793865 SCV000933242 benign Early infantile epileptic encephalopathy with suppression bursts 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001564471 SCV001787646 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; 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
Genome-Nilou Lab RCV001809808 SCV002056695 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352320 SCV002651816 likely benign Inborn genetic diseases 2024-08-20 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.
Revvity Omics, Revvity RCV001564471 SCV003822679 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing

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