ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001281456 SCV001468764 pathogenic Autistic disorder of childhood onset; Intellectual disability 2019-08-18 criteria provided, single submitter clinical testing The c.7020del (p.Asn2340LysfsTer7) variant identified in the KMT2A gene is the deletion of a single nucleotide resulting in a frame shift of the protein at amino acid 2340/3973 (coding exon 27/36), and is predicted to lead to the premature termination of the protein approximately 7 amino acids downstream. This variant is absent from gnomAD and ExAC, suggesting it is not a common benign variant in the populations represented in these databases. This variant has not been previously reported in affected individuals in the literature and is absent from ClinVar, although many nonsense and frameshift variants downstream have been reported as Pathogenic, including several in exon 27 [PMID: 22795537]. This variant was identified as a de novo variant in a proband submitted for clinical testing. Given its deleterious nature, its presence de novo in an affected invididual with no family history of similar clincal phenotype, and its absence in population databases, the c.7020del (p.Asn2340LysfsTer7) variant identified in the KMT2A gene is reported here as Pathogenic.

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