ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn)

gnomAD frequency: 0.00002  dbSNP: rs768143170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178430 SCV000230509 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178430 SCV001148724 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054116 SCV002465521 likely benign Kabuki syndrome 2023-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528949 SCV004111363 uncertain significance KMT2D-related disorder 2023-02-07 criteria provided, single submitter clinical testing The KMT2D c.13588G>A variant is predicted to result in the amino acid substitution p.Asp4530Asn. This variant has been reported in the heterozygous state in an individual with global developmental delay, autism spectrum disorder, aphasia, distinctive craniofacial features, strabismus, and cardiovascular defects (Blackburn et al. 2017. PubMed ID: 28057753). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49424759-C-T) and has conflicting interpretations of likely benign and uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/197411/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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