ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1078+2T>C

dbSNP: rs2529496106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003329197 SCV004035972 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-05-22 criteria provided, single submitter clinical testing The POGZ c.1078+2T>C variant results in a substitution at the consensus splice donor site which may result in splicing defects. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1078+2T>C variant is classified as a variant of uncertain significance for White-Sutton syndrome.

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