ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) (rs779357448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622621 SCV000742077 pathogenic Inborn genetic diseases 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000694985 SCV000823458 pathogenic Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2018-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala813Glnfs*29) in the ADAR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779357448, ExAC 0.001%). This variant has been observed to segregate with dyschromatosis symmetrica hereditaria families (PMID: 15146470, 25468572) and reported in affected individuals (PMID: 29185800). ClinVar contains an entry for this variant (Variation ID: 521470). Loss-of-function variants in ADAR are known to be pathogenic (PMID: 22974014). For these reasons, this variant has been classified as Pathogenic.

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