ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)

gnomAD frequency: 0.00002  dbSNP: rs754809056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287931 SCV001474698 uncertain significance not provided 2020-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001287931 SCV003285299 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001287931 SCV004169974 uncertain significance not provided 2023-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in the heterozygous state in a patient with spastic ataxia in published literature, but additional clinical information and familial segregation data were not included (Coutelier et al., 2018); This variant is associated with the following publications: (PMID: 29482223)

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