ClinVar Miner

Submissions for variant NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) (rs606231461)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299879 SCV001488995 uncertain significance not provided 2020-07-22 criteria provided, single submitter clinical testing This variant, c.5827_5841del, results in the deletion of 5 amino acid(s) of the DMXL2 protein (p.Asp1943_Ser1947del), 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 ExAC database. This variant has been observed in individual(s) with a complex endocrine and neurodevelopmental disorder (PMID: 25248098). 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.
OMIM RCV000148930 SCV000195818 pathogenic Polyendocrine-polyneuropathy syndrome 2014-09-01 no assertion criteria provided literature only

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