ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)

gnomAD frequency: 0.00074  dbSNP: rs116099040
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593759 SCV000707365 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593759 SCV001060323 likely benign not provided 2024-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000593759 SCV001791588 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV004024811 SCV004957107 likely benign Inborn genetic diseases 2023-11-21 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 RCV003980102 SCV004791990 likely benign SPTBN2-related disorder 2022-05-31 no assertion criteria provided 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).

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