ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.381+4_381+7del (rs1564400647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782094 SCV000920565 uncertain significance not provided 2018-06-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253727 SCV001429580 uncertain significance Desanto-shinawi syndrome 2020-01-09 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Clinical Genomics Program, Stanford Medicine RCV001253727 SCV001427241 uncertain significance Desanto-shinawi syndrome 2020-06-26 no assertion criteria provided clinical testing The c.381+4_381+7delAGTA variant in the WAC gene was identified de novo in this individual, but has not been previously reported in association with disease.This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/).The c.381+4_381+7delAGTA variant occurs in the 5’ splice site of intron 4 and computational tools predict that this variant causes a loss of the splice site.However, the accuracy of these computational tools is limited.These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the c.381+4_381+7delAGTA variant is uncertain.However, there is suspicion that this variant could be associated with disease due to it being identified de novo in this individual and the predicted impact to splicing. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PS2_Supporting;PM2; PP3]

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