ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)

gnomAD frequency: 0.00071  dbSNP: rs139012426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384110 SCV000339757 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000384110 SCV002538745 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000384110 SCV004265862 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547708 SCV004746737 likely benign ATP8B1-related disorder 2022-10-06 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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