ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003559004 SCV004277806 likely benign not provided 2024-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004554252 SCV004763293 uncertain significance ATP8B1-related disorder 2024-02-06 no assertion criteria provided clinical testing The ATP8B1 c.3108C>T is a noncoding alteration. This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual v2.11). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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