ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)

gnomAD frequency: 0.00038  dbSNP: rs145038571
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713515 SCV000229775 uncertain significance not provided 2014-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000713515 SCV000243105 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086665 SCV000553149 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713515 SCV000844136 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314636 SCV000849290 likely benign Inborn genetic diseases 2022-01-06 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.
Genome-Nilou Lab RCV001808453 SCV002056589 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713515 SCV004156419 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BS2
PreventionGenetics, part of Exact Sciences RCV004552999 SCV004780684 likely benign SPTAN1-related disorder 2020-09-10 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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