ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.2336A>G (p.Asp779Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003228259 SCV003924455 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821333 SCV005442639 uncertain significance Hearing loss, autosomal dominant 82 2024-12-15 criteria provided, single submitter research The ATP2B2 c.2336A>G:p.(Asp779Gly) heterozygous variant is predicted deleterious by most prediction tools and it is not found in gnomAD. It was detected in an individual with sloping normal-to-severe hearing loss.

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