ClinVar Miner

Submissions for variant NM_001291412.2(SON):c.245-3285del (rs886039776)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008077 SCV001167815 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing The c.4640delA variant in the SON gene has been reported previously using alternate nomenclature c.4640del in the apparently de novo state in association with a SON-related disorder (Kim et al., 2016). The c.4640delA variant causes a frameshift starting with codon Histidine 1547, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 76 of the new reading frame, denoted p.His1547LeufsX76. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4640delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4640delA as a pathogenic variant.
OMIM RCV000256197 SCV000322741 pathogenic ZTTK syndrome 2016-11-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000256197 SCV000883008 likely pathogenic ZTTK syndrome 2016-09-01 no assertion criteria provided research

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