ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu)

gnomAD frequency: 0.00009  dbSNP: rs373408367
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318049 SCV000849674 likely benign Inborn genetic diseases 2024-02-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862655 SCV001003189 likely benign not provided 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000862655 SCV001801182 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457772 SCV004177282 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928206 SCV004756626 likely benign SZT2-related disorder 2023-01-03 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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