ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.64del (p.Ser22fs)

dbSNP: rs2102370816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001599196 SCV001827211 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-09-03 criteria provided, single submitter clinical testing The detected change leads to a change in the reading frame and thus, in all probability, to a loss of function of the corresponding protein. To the best of our knowledge, it has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. At this point in time, the variant is to be regarded as a “probably pathogenic variant” (ACMG criteria).

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