ClinVar Miner

Submissions for variant NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del)

dbSNP: rs769691894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855861 SCV002294031 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing This variant, c.4151_4174del, results in the deletion of 8 amino acid(s) of the SON protein (p.Leu1384_Val1391del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with clinical features of Zhu-Tokita-Takenouchi-Kim syndrome (PMID: 27545680). ClinVar contains an entry for this variant (Variation ID: 617866). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000755182 SCV002519799 pathogenic ZTTK syndrome 2022-05-04 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755182 SCV000883011 likely pathogenic ZTTK syndrome 2016-09-01 no assertion criteria provided research

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