ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.926dup (p.Tyr309Ter)

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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 RCV003560171 SCV004298835 likely benign not provided 2023-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750906 SCV005358112 likely pathogenic ABCB6-related disorder 2024-09-05 no assertion criteria provided clinical testing The ABCB6 c.926dupA variant is predicted to result in premature protein termination (p.Tyr309*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.18% of alleles in individuals of Latino descent in gnomAD. Nonsense variants in ABCB6 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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